A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673918



Internal ID4718252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162738024..162740306hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6147209, essv6376369, essv5586181, essv6575385, essv5945641, essv5671111, essv5595336, essv5833926, essv5464715, essv5671325, essv5483737, essv5973435
SamplesNA18626, NA18949, NA18990, NA18564, NA18988, HG00589, NA18597, HG00595, NA18567, NA18602, NA18614, NA19070
Known GenesPARK2
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673918
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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