A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738274



Internal ID9972614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:21167491..21218276hg38UCSC Ensembl
Outerchr9:21167490..21218275hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3850786
hg1950786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6808989, essv6967263, essv6894203, essv6672317, essv6684031, essv6915693, essv6723993, essv6834446, essv6841958, essv6904439, essv6799679, essv6967251, essv6919635, essv6894532, essv6831331, essv6915694, essv6690376, essv6791327, essv6894510, essv6887617, essv6845561, essv6900259, essv6838149, essv6894521, essv6799680
SamplesSSM100, SSM083, SSM075, SSM045, SSM013, SSM084, SSM096, SSM017, SSM031, SSM001, SSM085, SSM072, SSM082, SSM016, SSM005, SSM010, SSM070, SSM004, SSM098, SSM012
Known GenesIFNA10, IFNA16, IFNA4, 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)esv2738274
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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