A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739452



Internal ID10323088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137450482..137450651hg38UCSC Ensembl
Outerchr9:140344934..140345103hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834555, essv6684759, essv6965143, essv6908477, essv6795637, essv6672523
SamplesSSM071, SSM027, SSM031, SSM014, SSM082, SSM034
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)esv2739452
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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