A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14243978



Internal ID4277629
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627359
Supporting Variants
SamplesHG03844
Known GenesCEP57, MTMR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14243978
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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