A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662586



Internal ID9928691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94545954..94548775hg38UCSC Ensembl
chr8:95558182..95561003hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg382822
hg192822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5675320, essv6071497, essv6095633, essv5802074, essv6449888, essv6431977, essv5705363, essv6381145, essv5898022, essv5819050, essv5909349, essv5464188, essv6124261, essv5531057, essv5874318, essv5613148, essv6281821, essv5459513, essv5745620, essv6295931, essv6556168, essv5917465, essv5565043, essv6237267, essv6535423, essv5719894, essv5973196, essv5477116, essv5409545, essv6220540, essv6538962, essv5898686, essv6559946, essv6313310, essv5588590
SamplesHG01060, NA19443, NA19190, NA20356, NA19446, NA19319, NA19197, NA19904, NA18868, NA19235, NA18867, NA19921, NA19908, NA19982, HG00551, HG01390, NA19461, NA19257, NA19469, HG01107, HG01075, NA19375, NA19390, NA19147, NA19712, NA19435, NA19380, NA19470, HG01108, NA19818, NA18501, NA19248, NA19468, NA19116, NA19346
Known GenesKIAA1429
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662586
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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