A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9766419



Internal ID18740665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:38715796..38716002hg38UCSC Ensembl
Outerchr6:38715778..38716021hg38UCSC Ensembl
Innerchr6:38683572..38683778hg19UCSC Ensembl
Outerchr6:38683554..38683797hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3567672
Supporting Variants
Samples
Known GenesDNAH8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9766419
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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