A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664306



Internal ID9930411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10481329..10485615hg38UCSC Ensembl
chr19:10592005..10596291hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384287
hg194287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6339187, essv6303884, essv5849192, essv5696826, essv5594661, essv6188929, essv6442482, essv5824602, essv5410670, essv6125136, essv6059874, essv5868422, essv6017392, essv6128529, essv5450235, essv6089230, essv6438337, essv5477617, essv6007132, essv6310350, essv5597271
SamplesNA19055, NA18596, NA18988, NA19076, NA18982, NA18582, HG00309, HG00443, NA19082, HG00328, NA19084, HG00690, HG00463, NA18634, HG00336, HG00580, NA19085, HG00672, HG00513, NA18987, NA18549
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664306
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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