A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14359006



Internal ID5707478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8666847..8671512hg38UCSC Ensembl
Innerchr12:8666863..8671497hg38UCSC Ensembl
Outerchr12:8666832..8671528hg38UCSC Ensembl
chr12:8819443..8824108hg19UCSC Ensembl
Innerchr12:8819459..8824093hg19UCSC Ensembl
Outerchr12:8819428..8824124hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384666
hg194666
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628475
Supporting Variants
SamplesNA19092
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14359006
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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