A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628149



Internal ID6668293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133449529..133453057hg38UCSC Ensembl
Innerchr11:133449529..133453057hg38UCSC Ensembl
Outerchr11:133449218..133453317hg38UCSC Ensembl
chr11:133319424..133322952hg19UCSC Ensembl
Innerchr11:133319424..133322952hg19UCSC Ensembl
Outerchr11:133319113..133323212hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg383529
hg193529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14318260, essv14318228, essv14318256, essv14318254, essv14318222, essv14318233, essv14318243, essv14318241, essv14318272, essv14318279, essv14318244, essv14318270, essv14318236, essv14318255, essv14318249, essv14318271, essv14318280, essv14318268, essv14318226, essv14318250, essv14318264, essv14318266, essv14318285, essv14318240, essv14318276, essv14318245, essv14318259, essv14318227, essv14318224, essv14318223, essv14318263, essv14318232, essv14318248, essv14318273, essv14318242, essv14318258, essv14318231, essv14318284, essv14318286, essv14318257, essv14318246, essv14318262, essv14318221, essv14318274, essv14318251, essv14318267, essv14318277, essv14318253, essv14318282, essv14318230, essv14318237, essv14318247, essv14318238, essv14318283, essv14318234, essv14318235, essv14318225, essv14318269, essv14318275, essv14318278, essv14318281, essv14318261, essv14318265, essv14318239, essv14318252, essv14318229
SamplesHG02879, HG02666, HG02317, HG03567, HG02970, HG03280, HG00743, HG03479, HG03055, HG03295, HG03133, HG03265, HG03212, HG03311, HG02884, HG02010, HG03048, HG03458, HG02471, HG03378, HG02583, HG02811, HG01363, HG03127, HG02634, HG01312, HG03484, NA19390, HG03300, HG02716, NA19197, NA20127, HG03464, HG01136, HG01879, HG02757, HG02941, NA20291, HG03391, HG03397, HG02461, HG02922, HG03547, HG02558, HG02611, HG02052, HG03115, HG03175, HG03352, NA19138, HG02819, NA19035, HG03045, NA19741, NA19446, NA18864, HG03074, HG03343, NA18917, HG02256, HG03258, HG01912, NA18924, HG03060, HG02051, NA19185
Known GenesOPCML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628149
Frequency
Sample Size2504
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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