A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627359



Internal ID7014189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:95832628..95833966hg38UCSC Ensembl
Innerchr11:95832628..95833966hg38UCSC Ensembl
Outerchr11:95832540..95834101hg38UCSC Ensembl
chr11:95565792..95567130hg19UCSC Ensembl
Innerchr11:95565792..95567130hg19UCSC Ensembl
Outerchr11:95565704..95567265hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg381339
hg191339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14243978, essv14243975, essv14243976, essv14243977, essv14243979
SamplesHG01366, HG03947, HG03844, HG01612, HG01512
Known GenesCEP57, MTMR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627359
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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