A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438226



Internal ID4440042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32420529..32453826hg38UCSC Ensembl
Innerchr12:32420679..32453676hg38UCSC Ensembl
Outerchr12:32420379..32453976hg38UCSC Ensembl
chr12:32573463..32606760hg19UCSC Ensembl
Innerchr12:32573613..32606610hg19UCSC Ensembl
Outerchr12:32573313..32606910hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3833298
hg1933298
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629079
Supporting Variants
SamplesHG01357
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438226
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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