A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658062



Internal ID9924167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:109781769..109785275hg38UCSC Ensembl
Outerchr13:109781398..109785645hg38UCSC Ensembl
Innerchr13:110434116..110437622hg19UCSC Ensembl
Outerchr13:110433745..110437992hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6095221, essv5537956, essv6077156, essv5908985, essv6160023, essv5782280, essv5596132, essv5543782, essv6444056, essv5675562, essv6455216, essv5995548, essv5962457, essv5634590, essv6057514, essv6163779, essv5635991, essv5900845, essv5416794, essv6123520, essv6556305, essv6571102, essv6238974, essv5803096, essv6350551, essv6380781, essv5480457, essv6183934, essv5615331, essv5412165, essv6223550, essv5891216, essv5893846, essv6065076, essv5575305, essv5811124, essv5582765, essv5647610, essv5859368, essv5616320, essv6461243, essv6462318, essv5737500, essv5856778, essv5962133, essv6231877, essv6442097, essv5488141, essv5780291, essv5497583, essv5721867, essv6287452, essv5682031, essv5924644, essv6212536, essv5903982, essv6542597, essv6536733, essv5869524, essv5487156
SamplesHG00189, HG00315, HG00318, HG00181, HG00179, HG00177, HG00337, HG00327, HG00271, HG00173, HG00330, HG00346, HG00270, HG00334, HG00281, HG00277, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00268, HG00266, HG00183, HG00282, HG00328, HG00190, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00353, HG00375, HG00278, HG00319, HG00339, HG00329, HG00342, HG00174, HG00310, HG00186, HG00280, HG00343, HG00274, HG00171, HG00345, HG00180
Known GenesIRS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658062
Frequency
Sample Size1151
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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