A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672852



Internal ID9938957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82767097..82770103hg38UCSC Ensembl
Outerchr5:82766476..82770573hg38UCSC Ensembl
Innerchr5:82062916..82065922hg19UCSC Ensembl
Outerchr5:82062295..82066392hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg384098
hg194098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1026e199
Supporting Variantsessv6515325, essv5929868, essv5858633, essv6389687, essv5834967, essv6241954, essv6088959, essv5850605, essv5679460, essv6244739, essv5514682, essv6334918, essv5740597, essv6121635, essv6306053, essv6462421, essv5440252, essv6034173, essv5486181, essv5745946, essv6295291, essv5831066, essv5611670, essv6438999, essv5871318, essv5547567, essv5729956, essv6592531, essv5700425, essv6328973, essv6308009, essv6076046, essv6351849, essv6136070, essv6007544, essv5480135, essv6321525, essv6583784, essv5576414, essv5479883, essv6383810, essv5445503, essv5816563, essv5458911, essv6219386, essv5957758, essv5485528, essv5656851, essv6345591, essv5978396, essv5574972, essv6303967, essv6240519, essv6283389, essv6062254, essv5894254, essv5645040
SamplesNA19648, HG01098, HG00143, HG01052, HG01188, HG00233, HG00103, HG00641, HG01070, NA19762, NA19728, NA19678, HG00736, NA19771, HG01083, NA19681, HG00243, HG00158, HG01069, HG01080, HG01067, NA19719, HG01176, NA19725, HG01198, HG00253, HG00260, NA19657, HG00732, HG00263, HG01047, NA19654, NA19655, HG01182, HG00117, HG01101, HG00152, NA19682, HG01204, HG00734, HG00638, NA19773, HG00237, NA19786, HG00256, NA19783, HG00125, NA19759, NA19779, HG01055, HG00123, HG00112, HG00131, NA19726, HG00252, HG01082, HG01191
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672852
Frequency
Sample Size1151
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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