A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738997



Internal ID9973338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121077448..121078190hg38UCSC Ensembl
Outerchr9:123839726..123840468hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38743
hg19743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737589, essv6760666, essv6734910, essv6935551, essv6763122, essv6672464, essv6708531
SamplesSSM050, SSM061, SSM062, SSM003, SSM031, SSM006, SSM049
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)esv2738997
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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