A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14552002



Internal ID3808324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83156663..83158617hg38UCSC Ensembl
Innerchr12:83156713..83158567hg38UCSC Ensembl
Outerchr12:83156613..83158667hg38UCSC Ensembl
chr12:83550442..83552396hg19UCSC Ensembl
Innerchr12:83550492..83552346hg19UCSC Ensembl
Outerchr12:83550392..83552446hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381955
hg191955
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630173
Supporting Variants
SamplesHG03451
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14552002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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