A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661805



Internal ID9927910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42600452..42600811hg38UCSC Ensembl
chr8:42455595..42455954hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5431907, essv6120075, essv5419415, essv5995239, essv6508131, essv5446233, essv5743493, essv5421267, essv6519339, essv6461348, essv5613116, essv5604746, essv6365208, essv6407480, essv6282014, essv6265395, essv6566693, essv5668383
SamplesNA19397, NA18861, NA20294, NA19819, NA19313, NA18498, NA19372, NA19455, NA19461, NA18853, NA19452, NA18523, NA19625, NA19375, HG01190, NA19311, NA20341, HG01082
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661805
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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