A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629095



Internal ID7015917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33111462..33113492hg38UCSC Ensembl
Innerchr12:33111462..33113492hg38UCSC Ensembl
Outerchr12:33111291..33113660hg38UCSC Ensembl
chr12:33264396..33266426hg19UCSC Ensembl
Innerchr12:33264396..33266426hg19UCSC Ensembl
Outerchr12:33264225..33266594hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382031
hg192031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14438604, essv14438605
SamplesHG01170, HG00732
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629095
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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