A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629961



Internal ID7016782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73746781..73748098hg38UCSC Ensembl
Innerchr12:73746781..73748098hg38UCSC Ensembl
Outerchr12:73746526..73748328hg38UCSC Ensembl
chr12:74140561..74141878hg19UCSC Ensembl
Innerchr12:74140561..74141878hg19UCSC Ensembl
Outerchr12:74140306..74142108hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381318
hg191318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14535322, essv14535321, essv14535320
SamplesNA19448, NA19452, NA19434
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629961
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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