A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625312



Internal ID7012147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:8422856..8425333hg38UCSC Ensembl
Innerchr11:8423356..8424833hg38UCSC Ensembl
Outerchr11:8421856..8426333hg38UCSC Ensembl
chr11:8444403..8446880hg19UCSC Ensembl
Innerchr11:8444903..8446380hg19UCSC Ensembl
Outerchr11:8443403..8447880hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382478
hg192478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14018089, essv14018087, essv14018084, essv14018076, essv14018072, essv14018075, essv14018080, essv14018070, essv14018098, essv14018081, essv14018069, essv14018085, essv14018088, essv14018071, essv14018078, essv14018079, essv14018095, essv14018083, essv14018093, essv14018082, essv14018096, essv14018094, essv14018091, essv14018097, essv14018092, essv14018086, essv14018073, essv14018090, essv14018074, essv14018077
SamplesHG01624, HG03731, NA12340, HG01250, HG01277, NA11930, NA12275, HG01398, HG02003, HG01284, HG01275, HG00108, HG01603, HG01501, HG01383, HG03006, HG01589, HG01257, NA20821, HG03720, HG03848, HG01131, HG02220, HG00734, HG03920, HG04003, HG03779, HG01468, HG01125, NA12776
Known GenesSTK33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625312
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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