A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14547937



Internal ID4549754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80072715..80112445hg38UCSC Ensembl
Innerchr12:80072715..80112445hg38UCSC Ensembl
Outerchr12:80072215..80112945hg38UCSC Ensembl
chr12:80466495..80506225hg19UCSC Ensembl
Innerchr12:80466495..80506225hg19UCSC Ensembl
Outerchr12:80465995..80506725hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3839731
hg1939731
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630100
Supporting Variants
SamplesHG01617
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14547937
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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