A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626152



Internal ID7012986
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14113215, essv14113213, essv14113214, essv14113216
SamplesNA12005, NA19789, NA19729, NA19661
Known GenesHSD17B12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626152
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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