A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738949



Internal ID9973290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:112517020..112517197hg38UCSC Ensembl
Outerchr9:115279300..115279477hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672456, essv6716336, essv6939899, essv6681187, essv6931368
SamplesSSM022, SSM033, SSM043, SSM031, SSM020
Known GenesKIAA1958
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)esv2738949
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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