A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738277



Internal ID9972617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:21195436..21236201hg38UCSC Ensembl
Outerchr9:21195435..21236200hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3840766
hg1940766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967274, essv6884755, essv6801776, essv6919636, essv6799682, essv6890841, essv6755139, essv6819088, essv6734576, essv6791328, essv6690487, essv6763063, essv6684031, essv6873328, essv6746458, essv6870368, essv6799681, essv6691169, essv6831331, essv6672318, essv6944343, essv6964941, essv6752184, essv6811856, essv6866497, essv6787217, essv6830847, essv6915696, essv6727835, essv6919637
SamplesSSM036, SSM027, SSM046, SSM097, SSM009, SSM057, SSM023, SSM058, SSM090, SSM069, SSM062, SSM089, SSM017, SSM031, SSM001, SSM081, SSM072, SSM007, SSM078, SSM016, SSM005, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM004
Known GenesIFNA10, IFNA16, IFNA17, 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)esv2738277
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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