A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14113216



Internal ID6273026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43750054..43761074hg38UCSC Ensembl
Innerchr11:43750070..43761058hg38UCSC Ensembl
Outerchr11:43750038..43761090hg38UCSC Ensembl
chr11:43771604..43782624hg19UCSC Ensembl
Innerchr11:43771620..43782608hg19UCSC Ensembl
Outerchr11:43771588..43782640hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3811021
hg1911021
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626152
Supporting Variants
SamplesNA19789
Known GenesHSD17B12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14113216
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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