A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10930985



Internal ID4949536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12862487..12873127hg38UCSC Ensembl
Innerchr3:12862496..12873118hg38UCSC Ensembl
Outerchr3:12862478..12873136hg38UCSC Ensembl
chr3:12903986..12914626hg19UCSC Ensembl
Innerchr3:12903995..12914617hg19UCSC Ensembl
Outerchr3:12903977..12914635hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3810641
hg1910641
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595340
Supporting Variants
SamplesNA12815
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10930985
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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