A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663417



Internal ID9929522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67442219..67447757hg38UCSC Ensembl
chr17:65438335..65443873hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg385539
hg195539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6430042, essv6328211, essv6099060, essv6398339, essv6325788, essv6207300, essv5930864, essv6386968
SamplesNA20808, NA12413, HG01067, HG01048, NA11993, HG00273, HG01357, HG01174
Known GenesPITPNC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663417
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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