A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9766243



Internal ID18393803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29893346..29937223hg38UCSC Ensembl
Outerchr6:29883224..29948546hg38UCSC Ensembl
Innerchr6:29861123..29905000hg19UCSC Ensembl
Outerchr6:29851001..29916323hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3865323
hg1965323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3567496
Supporting Variants
Samples
Known GenesHCG4B, HLA-A, HLA-H
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9766243
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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