A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671303



Internal ID9590722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:12673869..12675975hg38UCSC Ensembl
Outerchr11:12673498..12676345hg38UCSC Ensembl
Innerchr11:12695416..12697522hg19UCSC Ensembl
Outerchr11:12695045..12697892hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6103830, essv5960214, essv6235531, essv6341831, essv5609969, essv5663046, essv5793433, essv5919635, essv5811624, essv6033608, essv6178035, essv6193363, essv6106496, essv5555749, essv6168000, essv6002812, essv6447669, essv6316095, essv5396886, essv6470536, essv6169404, essv6168479, essv6302430, essv6344498, essv5998891, essv6498385, essv6060195, essv6330313, essv5795285, essv5759378, essv5415926, essv5574821, essv5669205, essv6400122, essv6260462, essv6114132, essv5830335, essv5815490, essv6124536, essv6380569, essv5711659, essv6116676, essv5511733, essv6387617, essv6210508, essv5455523, essv5848778, essv5559921, essv6134811, essv5972473, essv5459104, essv5867690, essv6399880, essv6397835, essv6564935, essv6248189, essv6040647, essv5791400, essv6585396, essv5708416, essv5959408, essv5859250, essv6565248, essv6077098, essv6555290, essv6281351, essv5712710, essv5663911, essv6403421, essv6510328, essv5840337, essv6344756
SamplesHG00189, HG00361, HG00187, HG00315, HG00306, HG00367, HG00318, HG00181, HG00337, HG00327, HG00271, HG00272, HG00173, HG00330, HG00346, HG00369, HG00270, HG00334, HG00185, HG00311, HG00281, HG00277, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00188, HG00268, HG00266, HG00183, HG00282, HG00328, HG00190, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00366, HG00353, HG00375, HG00357, HG00278, HG00319, HG00339, HG00269, HG00312, HG00329, HG00342, HG00174, HG00310, HG00186, HG00280, HG00343, HG00377, HG00372, HG00274, HG00171, HG00345
Known GenesTEAD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671303
Frequency
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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