A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14318220



Internal ID4320036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133319645..133322180hg38UCSC Ensembl
Innerchr11:133319654..133322171hg38UCSC Ensembl
Outerchr11:133319636..133322189hg38UCSC Ensembl
chr11:133189540..133192075hg19UCSC Ensembl
Innerchr11:133189549..133192066hg19UCSC Ensembl
Outerchr11:133189531..133192084hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg382536
hg192536
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628148
Supporting Variants
SamplesHG00457
Known GenesOPCML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14318220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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