A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214360



Internal ID4216176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77253973..77256723hg38UCSC Ensembl
Innerchr11:77253975..77256721hg38UCSC Ensembl
Outerchr11:77253971..77256725hg38UCSC Ensembl
chr11:76965018..76967768hg19UCSC Ensembl
Innerchr11:76965020..76967766hg19UCSC Ensembl
Outerchr11:76965016..76967770hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg382751
hg192751
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626880
Supporting Variants
SamplesHG01971
Known GenesGDPD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214360
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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