A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9738819



Internal ID18366362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:83519092..83522776hg38UCSC Ensembl
Outerchr6:83518814..83522953hg38UCSC Ensembl
Innerchr6:84228811..84232495hg19UCSC Ensembl
Outerchr6:84228533..84232672hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg384140
hg194140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3540072
Supporting Variants
Samples
Known GenesPRSS35
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9738819
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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