A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14085508



Internal ID5527623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33296547..33315520hg38UCSC Ensembl
Innerchr11:33296557..33315511hg38UCSC Ensembl
Outerchr11:33296538..33315530hg38UCSC Ensembl
chr11:33318093..33337066hg19UCSC Ensembl
Innerchr11:33318103..33337057hg19UCSC Ensembl
Outerchr11:33318084..33337076hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3818974
hg1918974
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625878
Supporting Variants
SamplesNA18995
Known GenesHIPK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14085508
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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