A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738620



Internal ID9972961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:79146356..79146701hg38UCSC Ensembl
Outerchr9:81761271..81761616hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923827, essv6709124
SamplesSSM041, SSM018
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)esv2738620
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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