esco2[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7098171	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 27,645,392-27,650,338 , GRCh38.p12 chr8: 27,787,875-27,792,821	ESCO2
nsv5674055	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 27,641,507-27,641,584 , GRCh38.p12 chr8: 27,783,990-27,784,067	ESCO2
nsv7098170	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr8: 27,633,032-27,633,104 , GRCh38.p12 chr8: 27,775,515-27,775,587	ESCO2
nsv6315449	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-30,187,456 , GRCh38.p12 chr8: 208,048-30,329,940	ESCO2, LOC101928016, 568 more genes
nsv7148146	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 12,721,809-30,183,737 , GRCh37.p13 chr8: 12,579,318-30,041,253	ESCO2, LOC101929028, 274 more genes
nsv3916527	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 15,137,722-32,366,274 , GRCh37.p13 chr8: 15,093,351-32,246,732 , GRCh38.p12 chr8: 15,235,842-32,389,216	ESCO2, LOC105379343, 281 more genes
nsv3921296	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 12,383,584-29,033,946 , NCBI36 chr8: 12,285,464-28,947,382 , GRCh37 chr8: 12,241,093-28,891,463	ESCO2, XPO7, 264 more genes
nsv3923174	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 18,972,996-33,619,264 , GRCh37 chr8: 18,830,506-33,476,782 , NCBI36 chr8: 18,874,786-33,596,324	ESCO2, RPLP1P9, 259 more genes
nsv6637025	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 26,808,969-38,346,383 , GRCh38.p12 chr8: 26,951,452-38,488,865	ESCO2, LINC02948, 185 more genes
nsv3919731	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 25,171,103-31,750,600 , NCBI36 chr8: 25,084,535-31,727,658 , GRCh37 chr8: 25,028,618-31,608,116	ESCO2, LOC100131127, 122 more genes
nsv3923302	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 24,910,364-31,210,737 , NCBI36 chr8: 24,823,781-31,187,795 , GRCh37 chr8: 24,767,877-31,068,253	ESCO2, BNIP3L, 123 more genes
nsv3911687	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 24,910,364-31,196,357 , NCBI36 chr8: 24,823,781-31,173,415 , GRCh37 chr8: 24,767,877-31,053,873	ESCO2, EXTL3-AS1, 123 more genes
nsv4675292	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 24,305,969-28,673,405 , GRCh38.p12 chr8: 24,448,456-28,815,888	ESCO2, LOC112268023, 79 more genes
nsv3915173	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 3,938-146,274,826 , GRCh37.p13 chr8: 13,938-146,304,022 , GRCh38.p12 chr8: 63,938-145,078,636	ESCO2, RN7SL474P, 2109 more genes
nsv3901821	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 10,213-146,293,414 , GRCh38.p12 chr8: 60,213-145,068,028	ESCO2, TBC1D31, 2109 more genes
nsv4349554	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-146,295,771 , GRCh38.p12 chr8: 208,048-145,070,385	ESCO2, LOC101929488, 2105 more genes
nsv3916777	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-146,295,771 , GRCh38 chr8: 208,048-145,070,385 , NCBI36 chr8: 148,048-146,266,575	ESCO2, RPL5P22, 2105 more genes
nsv3898123	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr8: 158,049-146,295,771 , GRCh38.p12 chr8: 208,049-145,070,385	ESCO2, SPAG1, 2105 more genes
nsv3908608	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 164,984-146,293,414 , GRCh38.p12 chr8: 214,984-145,068,028	ESCO2, LINC01617, 2105 more genes
nsv3893757	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,991-146,280,828 , GRCh38.p12 chr8: 208,991-145,055,442	ESCO2, LOC105375890, 2105 more genes

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 75

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Number of Variants: 20

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