A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6963873



Internal ID9990414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93911841..93916047hg38UCSC Ensembl
Outerchr7:93541153..93545359hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg384207
hg194207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734826
Supporting Variants
SamplesSSM004
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6963873
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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