A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745242



Internal ID10326212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128915866..128916398hg38UCSC Ensembl
Outerchr11:128785761..128786293hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38533
hg19533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688238, essv6908802, essv6732068, essv6771353, essv6862311, essv6870681, essv6806333, essv6900600, essv6823575, essv6760928, essv6944871, essv6827649, essv6691541, essv6800156, essv6931775, essv6728274, essv6749632, essv6716731, essv6771994, essv6949031, essv6959170, essv6897607, essv6743985, essv6920092, essv6695483, essv6904864, essv6885045, essv6752526, essv6706160, essv6867078
SamplesSSM100, SSM036, SSM008, SSM024, SSM046, SSM079, SSM065, SSM013, SSM074, SSM088, SSM057, SSM023, SSM090, SSM047, SSM061, SSM026, SSM089, SSM017, SSM035, SSM014, SSM040, SSM072, SSM020, SSM053, SSM080, SSM037, SSM095, SSM099, SSM043, SSM056
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)esv2745242
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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