A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745243



Internal ID9979527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128916019..128916276hg38UCSC Ensembl
Outerchr11:128785914..128786171hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716731, essv6885045, essv6959170, essv6827649, essv6897607, essv6806333, essv6695483, essv6706160, essv6870681, essv6800156, essv6688238, essv6771353, essv6771994, essv6862311, essv6900600, essv6728274, essv6949031, essv6920092, essv6944871, essv6931775, essv6691541, essv6904864, essv6908802, essv6867078, essv6823575, essv6732068
SamplesSSM065, SSM013, SSM036, SSM099, SSM040, SSM043, SSM088, SSM089, SSM090, SSM035, SSM072, SSM020, SSM024, SSM100, SSM017, SSM095, SSM047, SSM037, SSM046, SSM023, SSM079, SSM074, SSM026, SSM014, SSM008, SSM080
Known GenesKCNJ5
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)esv2745243
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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