A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753208



Internal ID18380768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44811334..44814358hg38UCSC Ensembl
Outerchr17:44811199..44814402hg38UCSC Ensembl
Innerchr17:42888702..42891726hg19UCSC Ensembl
Outerchr17:42888567..42891770hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383204
hg193204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554461
Supporting Variants
Samples
Known GenesGJC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753208
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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