A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673918



Internal ID2907005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162316992..162319274hg38UCSC Ensembl
chr6:162738024..162740306hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg382283
hg192283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
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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