A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673107



Internal ID9939212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52281271..52284473hg38UCSC Ensembl
chr5:51577105..51580307hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383203
hg193203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5842441, essv6485099, essv5555604, essv5519637, essv6491877, essv5607493, essv5730394, essv5803668, essv6204426, essv5576252, essv5824110, essv5903327, essv5640928, essv5642628, essv5572316
SamplesNA19700, NA19909, NA19399, NA19377, HG01051, NA18498, NA18874, NA20340, HG01136, NA19247, NA19236, NA18871, NA19469, NA19712, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673107
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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