A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958594



Internal ID10067107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137450395..137450704hg38UCSC Ensembl
Outerchr9:140344847..140345156hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739451, esv2739449
Supporting Variants
SamplesSSM026
Known GenesNSMF
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)essv6958594
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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