A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14221271



Internal ID2778462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85057757..85067084hg38UCSC Ensembl
Innerchr11:85058257..85066584hg38UCSC Ensembl
Outerchr11:85056757..85068084hg38UCSC Ensembl
chr11:84768801..84778128hg19UCSC Ensembl
Innerchr11:84769301..84777628hg19UCSC Ensembl
Outerchr11:84767801..84779128hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg389328
hg199328
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627056
Supporting Variants
SamplesHG02450
Known GenesDLG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14221271
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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