A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677046



Internal ID4721380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33996703..33996815hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6272688, essv5870104, essv5610953, essv6590682, essv5793500, essv5661778, essv6502002, essv6500556, essv6183443, essv6401762, essv5479078, essv5627100, essv5837116, essv5622166, essv5464706, essv6583398, essv6529889, essv5902087, essv5935077, essv6141900, essv6501634, essv6226906, essv5975460, essv6036136, essv6152542, essv5753420, essv6560442, essv6425044, essv5409188, essv6093123, essv6302001, essv5560980, essv6102251, essv5952776
SamplesHG00323, HG01072, NA18550, HG00326, HG00111, HG00280, HG00699, HG00256, NA18632, NA18559, NA18566, NA18622, HG00692, HG01183, HG00419, HG00125, NA18637, NA11995, HG00276, HG00620, NA18620, HG01066, HG00232, HG00249, NA18564, HG00525, NA18562, HG01060, HG00650, NA18602, NA18571, NA18532, HG00671, HG00271
Known GenesPEPD
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677046
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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