A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900292



Internal ID9947754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:77915144..77915343hg38UCSC Ensembl
Outerchr9:80530060..80530259hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738613
Supporting Variants
SamplesSSM100
Known GenesGNAQ
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)essv6900292
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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