A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658532



Internal ID9924637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129302789..129305144hg38UCSC Ensembl
chr9:132065068..132067423hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382356
hg192356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6514893, essv6203905, essv5683669, essv5964389, essv6492679, essv5895421, essv5560403, essv5696740, essv6437075, essv5934137, essv5426026, essv5585325, essv5602485, essv5795727, essv5816714, essv6552230, essv6164573, essv5524953, essv6019704, essv5942596, essv5583413, essv5586403, essv5877870, essv5871881, essv5858393, essv6506032, essv5431829, essv6460766, essv6358422, essv5754914, essv6416965, essv5482885, essv5851114, essv5798890, essv5791850, essv6331291
SamplesHG00542, HG00592, HG01462, HG00524, NA18561, NA19057, NA19684, HG00449, NA18595, NA18618, NA19782, HG00512, NA18557, HG00419, HG01124, NA18605, NA18613, NA19657, HG00653, NA19663, HG00500, NA18572, NA18573, NA18626, HG00404, NA18555, NA18593, NA18945, NA18953, NA18542, NA18543, NA19783, NA19661, HG00472, NA19004, NA18623
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658532
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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