A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6952757



Internal ID10061022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:96300289..96300630hg38UCSC Ensembl
Outerchr9:99062571..99062912hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738812
Supporting Variants
SamplesSSM025
Known GenesHSD17B3
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)essv6952757
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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