Variant Details

Variant: esv3638272

Internal ID

6678370

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:25218666..25219833	hg38	UCSC Ensembl
Inner	chr16:25218679..25219820	hg38	UCSC Ensembl
Outer	chr16:25218653..25219846	hg38	UCSC Ensembl
	chr16:25229987..25231154	hg19	UCSC Ensembl
Inner	chr16:25230000..25231141	hg19	UCSC Ensembl
Outer	chr16:25229974..25231167	hg19	UCSC Ensembl

Cytoband

16p12.1

Allele length

Assembly	Allele length
hg38	1168
hg19	1168

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15431331, essv15431288, essv15431344, essv15431333, essv15431313, essv15431314, essv15431281, essv15431326, essv15431287, essv15431285, essv15431348, essv15431296, essv15431295, essv15431308, essv15431316, essv15431278, essv15431249, essv15431307, essv15431264, essv15431246, essv15431244, essv15431325, essv15431261, essv15431290, essv15431265, essv15431349, essv15431275, essv15431321, essv15431306, essv15431339, essv15431283, essv15431266, essv15431247, essv15431300, essv15431260, essv15431245, essv15431336, essv15431323, essv15431327, essv15431259, essv15431350, essv15431324, essv15431268, essv15431335, essv15431309, essv15431345, essv15431299, essv15431341, essv15431252, essv15431272, essv15431312, essv15431302, essv15431284, essv15431255, essv15431297, essv15431248, essv15431319, essv15431303, essv15431347, essv15431243, essv15431334, essv15431274, essv15431310, essv15431257, essv15431262, essv15431276, essv15431279, essv15431340, essv15431298, essv15431241, essv15431338, essv15431301, essv15431294, essv15431271, essv15431250, essv15431269, essv15431304, essv15431291, essv15431258, essv15431311, essv15431280, essv15431270, essv15431353, essv15431254, essv15431267, essv15431239, essv15431329, essv15431317, essv15431293, essv15431282, essv15431251, essv15431305, essv15431289, essv15431330, essv15431320, essv15431286, essv15431240, essv15431351, essv15431342, essv15431315, essv15431352, essv15431343, essv15431346, essv15431256, essv15431253, essv15431328, essv15431337, essv15431332, essv15431318, essv15431292, essv15431273, essv15431277, essv15431242, essv15431263, essv15431322

Samples

HG00304, NA12286, NA19664, HG03548, HG03163, HG01773, HG02973, NA20274, HG02318, HG00315, NA18877, NA12045, HG03558, NA19350, HG01305, NA18486, HG02476, NA20294, HG02277, HG01456, HG02536, NA19098, NA12399, HG00337, NA19374, HG03133, HG01341, HG01503, NA20796, HG02105, NA19131, NA07048, HG03578, HG01083, NA19384, HG01110, NA20759, NA18868, NA19719, NA19238, NA19317, HG01176, HG02420, NA19036, NA20811, HG02545, NA20355, NA20342, NA19209, NA19025, HG03583, HG01550, NA19921, HG01312, HG03169, HG01524, NA12777, HG01183, HG01139, HG02977, HG02570, HG02334, HG02678, NA20760, HG02322, NA18915, HG00320, HG01768, HG02470, HG02555, HG01092, HG03311, HG03563, NA19114, HG03202, HG00110, NA18912, HG03446, HG02884, NA18853, HG01474, NA06985, HG02219, HG01625, HG01107, NA19401, HG02330, HG02282, HG02667, NA19108, NA12775, HG00375, NA19435, HG01958, HG01977, HG00308, NA19310, HG03473, HG01765, HG01432, NA19223, HG02938, NA12830, NA20289, HG01251, HG00274, NA19121, HG03445, HG02947, NA19430, NA19146, HG00171, HG00345, HG01672, HG03166

Known Genes

AQP8

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3638272

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	115
Observed Complex	0
Frequency	n/a