A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14088427



Internal ID4090243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33734188..33739983hg38UCSC Ensembl
Innerchr11:33734188..33739983hg38UCSC Ensembl
Outerchr11:33733688..33740483hg38UCSC Ensembl
chr11:33755734..33761529hg19UCSC Ensembl
Innerchr11:33755734..33761529hg19UCSC Ensembl
Outerchr11:33755234..33762029hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg385796
hg195796
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625894
Supporting Variants
SamplesHG02048
Known GenesCD59
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14088427
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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