A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14210468



Internal ID1019633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71503993..71537515hg38UCSC Ensembl
Innerchr11:71504039..71537469hg38UCSC Ensembl
Outerchr11:71503947..71537561hg38UCSC Ensembl
chr11:71215039..71248561hg19UCSC Ensembl
Innerchr11:71215085..71248515hg19UCSC Ensembl
Outerchr11:71214993..71248607hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3833523
hg1933523
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626778
Supporting Variants
SamplesHG00638
Known GenesKRTAP5-7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14210468
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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