A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629604



Internal ID7016425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56906812..56909245hg38UCSC Ensembl
Innerchr12:56906871..56909186hg38UCSC Ensembl
Outerchr12:56906753..56909304hg38UCSC Ensembl
chr12:57300596..57303029hg19UCSC Ensembl
Innerchr12:57300655..57302970hg19UCSC Ensembl
Outerchr12:57300537..57303088hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382434
hg192434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14486751, essv14486753, essv14486752, essv14486746, essv14486748, essv14486750, essv14486749, essv14486747
SamplesHG00881, NA18528, HG03976, HG02155, HG01816, HG02190, HG00844, HG03488
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629604
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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