A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11308503



Internal ID6312843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196590860..196592285hg38UCSC Ensembl
Innerchr3:196590873..196592272hg38UCSC Ensembl
Outerchr3:196590847..196592298hg38UCSC Ensembl
chr3:196317731..196319156hg19UCSC Ensembl
Innerchr3:196317744..196319143hg19UCSC Ensembl
Outerchr3:196317718..196319169hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381426
hg191426
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599288
Supporting Variants
SamplesNA19914
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11308503
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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