A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738367



Internal ID10322003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:32623728..32623929hg38UCSC Ensembl
Outerchr9:32623726..32623927hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799694, essv6709095, essv6823146, essv6746469
SamplesSSM079, SSM041, SSM072, SSM055
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)esv2738367
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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