A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14212367



Internal ID2318608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73709173..73715946hg38UCSC Ensembl
Innerchr11:73709223..73715896hg38UCSC Ensembl
Outerchr11:73709072..73716047hg38UCSC Ensembl
chr11:73420218..73426991hg19UCSC Ensembl
Innerchr11:73420268..73426941hg19UCSC Ensembl
Outerchr11:73420117..73427092hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg386774
hg196774
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626819
Supporting Variants
SamplesHG02064
Known GenesRAB6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14212367
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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