A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659359



Internal ID9925464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29613663..29615128hg38UCSC Ensembl
chr8:29471179..29472644hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381466
hg191466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6538818, essv6332550, essv5593075, essv6140200, essv6551091, essv5893544, essv5481587, essv5814328, essv5792663, essv6076784, essv6176385, essv5904279, essv5571229, essv6452582, essv6033735, essv5972311, essv6414134, essv6207650, essv6578526, essv6085357, essv6213337, essv6475822, essv5892535, essv5714515
SamplesNA19703, NA19397, NA19466, NA19914, NA19374, NA19396, NA19373, NA19916, NA19130, NA18874, NA19371, NA19172, NA19159, NA18871, NA19436, NA20801, NA19331, NA19334, NA19376, NA18501, NA20348, NA19438, NA19116, HG01377
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659359
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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