A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14535320



Internal ID6023662
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629961
Supporting Variants
SamplesNA19434
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14535320
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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