A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214049



Internal ID5839911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75646837..75648527hg38UCSC Ensembl
Innerchr11:75646841..75648523hg38UCSC Ensembl
Outerchr11:75646833..75648531hg38UCSC Ensembl
chr11:75357882..75359572hg19UCSC Ensembl
Innerchr11:75357886..75359568hg19UCSC Ensembl
Outerchr11:75357878..75359576hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg381691
hg191691
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626859
Supporting Variants
SamplesNA19213
Known GenesMAP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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