A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628054



Internal ID7014879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129037298..129038869hg38UCSC Ensembl
Innerchr11:129037298..129038869hg38UCSC Ensembl
Outerchr11:129037009..129039112hg38UCSC Ensembl
chr11:128907193..128908764hg19UCSC Ensembl
Innerchr11:128907193..128908764hg19UCSC Ensembl
Outerchr11:128906904..128909007hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381572
hg191572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14308966, essv14308951, essv14308963, essv14308956, essv14308944, essv14308970, essv14308957, essv14308961, essv14308953, essv14308960, essv14308950, essv14308967, essv14308942, essv14308973, essv14308945, essv14308958, essv14308949, essv14308943, essv14308954, essv14308962, essv14308964, essv14308955, essv14308968, essv14308969, essv14308952, essv14308946, essv14308965, essv14308959, essv14308948, essv14308947, essv14308971, essv14308972
SamplesNA19107, HG03082, HG00641, NA18923, NA19916, NA19235, HG02471, NA20127, HG01312, HG02442, HG03511, NA19175, HG03547, HG03563, HG03476, HG01988, HG01990, NA19206, NA19321, HG03458, HG03433, HG03565, HG03432, HG03025, HG03258, NA19121, NA19146, HG03376, HG02284, HG01886, HG03118, HG02343
Known GenesARHGAP32
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628054
Frequency
Sample Size2504
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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