A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605095



Internal ID6992123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55183557..55184043hg38UCSC Ensembl
Innerchr5:55183558..55184043hg38UCSC Ensembl
Outerchr5:55183557..55184044hg38UCSC Ensembl
chr5:54479385..54479871hg19UCSC Ensembl
Innerchr5:54479386..54479871hg19UCSC Ensembl
Outerchr5:54479385..54479872hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11904162, essv11904175, essv11904169, essv11904168, essv11904166, essv11904159, essv11904161, essv11904156, essv11904158, essv11904173, essv11904176, essv11904150, essv11904171, essv11904157, essv11904151, essv11904155, essv11904154, essv11904167, essv11904153, essv11904172, essv11904179, essv11904178, essv11904163, essv11904164, essv11904152, essv11904174, essv11904170, essv11904165, essv11904160, essv11904177
SamplesNA18924, NA19355, HG03518, NA18510, NA19446, HG03133, NA19171, NA19379, NA19319, HG02840, HG03578, HG01242, HG03212, NA19372, HG03045, NA19024, NA19471, NA19403, NA19114, HG02256, HG03109, NA19473, NA19435, NA19475, HG03084, NA19376, NA20348, HG03442, HG03025, NA18488
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605095
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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