A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661375



Internal ID9580794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51802158..51804564hg38UCSC Ensembl
chr6:51666956..51669362hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382407
hg192407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5421057, essv5557897, essv6555895, essv6351349, essv5492523, essv5518481, essv6487431, essv6406965
SamplesNA19700, NA19914, NA19350, NA19819, NA18871, NA18853, NA19436, NA18487
Known GenesPKHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661375
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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