A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14212172



Internal ID376808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73238986..73240751hg38UCSC Ensembl
Innerchr11:73238990..73240748hg38UCSC Ensembl
Outerchr11:73238983..73240755hg38UCSC Ensembl
chr11:72950031..72951796hg19UCSC Ensembl
Innerchr11:72950035..72951793hg19UCSC Ensembl
Outerchr11:72950028..72951800hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381766
hg191766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626813
Supporting Variants
SamplesHG00109
Known GenesP2RY2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14212172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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