A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663435



Internal ID9582854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51938240..51943982hg38UCSC Ensembl
chr6:51803038..51808780hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg385743
hg195743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5838340, essv5592781, essv5646518, essv5396820, essv5487356, essv6150820, essv5667010, essv5818260, essv6039880, essv6579949, essv6062666, essv6186488, essv5715237, essv5500827, essv5424995, essv6362965, essv5738220, essv5483553
SamplesHG00323, NA20503, NA20796, HG00173, HG00270, HG01350, HG01101, NA20798, NA20811, HG00372, HG00276, HG00357, HG00306, HG00108, NA19921, HG00262, HG00271, HG00327
Known GenesPKHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663435
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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