A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14318162



Internal ID4319978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133089714..133090797hg38UCSC Ensembl
Innerchr11:133089714..133090797hg38UCSC Ensembl
Outerchr11:133089501..133091029hg38UCSC Ensembl
chr11:132959609..132960692hg19UCSC Ensembl
Innerchr11:132959609..132960692hg19UCSC Ensembl
Outerchr11:132959396..132960924hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628141
Supporting Variants
SamplesNA19726
Known GenesOPCML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14318162
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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