A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738276



Internal ID9972616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:21190219..21209767hg38UCSC Ensembl
Outerchr9:21190218..21209766hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3819549
hg1919549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1253e201
Supporting Variantsessv6808989, essv6967263, essv6894203, essv6672317, essv6684031, essv6723993, essv6834446, essv6841958, essv6904439, essv6799679, essv6831331, essv6915694, essv6791327, essv6887617, essv6845561, essv6900259, essv6838149, essv6799680
SamplesSSM100, SSM083, SSM075, SSM045, SSM013, SSM084, SSM096, SSM031, SSM085, SSM072, SSM082, SSM016, SSM005, SSM010, SSM070, SSM004, SSM098
Known GenesIFNA10, IFNA7
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)esv2738276
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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