A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673843



Internal ID9593262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70996689..71095295hg38UCSC Ensembl
Outerchr5:70996318..71095665hg38UCSC Ensembl
Innerchr5:70292516..70391122hg19UCSC Ensembl
Outerchr5:70292145..70391492hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3899348
hg1999348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5626703, essv6558026, essv6474111, essv5699034, essv5722269, essv5680169, essv5489866, essv5533000, essv6131899, essv5825481, essv6394951, essv5688789, essv6094647, essv5680456, essv6005514, essv6536595, essv6425863, essv5524290, essv5654855, essv6241706, essv6254249, essv5671607, essv5788755, essv5554265, essv6124464, essv5854800, essv5547399, essv5880944, essv5527691, essv5811398, essv6197481, essv6454393, essv5685328, essv5875393, essv6019016, essv5808780, essv5988315, essv6297884, essv5870813, essv5983628, essv5910069, essv5804197, essv6565131, essv6313792, essv6437063
SamplesNA19012, NA18964, NA19081, NA18952, NA19003, NA19072, NA18947, NA18963, NA19004, NA19084, NA18949, NA19077, NA19062, NA19085, NA19057, NA19068, NA19083, NA19088, NA18956, NA18959, NA18976, NA19075, NA18982, NA19082, NA19000, NA19055, NA19080, NA18968, NA19005, NA19002, NA18941, NA18985, NA18945, NA18940, NA18999, NA18983, NA18989, NA18971, NA18944, NA19063, NA18981, NA19079, NA19007, NA19065, NA18980
Known GenesGTF2H2, LOC647859, NAIP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673843
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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