A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641091



Internal ID7027865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67442204..67447741hg38UCSC Ensembl
Innerchr17:67442209..67447737hg38UCSC Ensembl
Outerchr17:67442200..67447746hg38UCSC Ensembl
chr17:65438320..65443857hg19UCSC Ensembl
Innerchr17:65438325..65443853hg19UCSC Ensembl
Outerchr17:65438316..65443862hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg385538
hg195538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15727426, essv15727420, essv15727430, essv15727434, essv15727421, essv15727433, essv15727422, essv15727431, essv15727427, essv15727424, essv15727432, essv15727435, essv15727425, essv15727423, essv15727429, essv15727428
SamplesNA20532, HG01456, NA20808, NA12413, HG01177, HG01067, NA20775, HG01757, HG01709, HG01605, HG01088, HG00273, NA12546, HG01357, HG01174, HG01695
Known GenesPITPNC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641091
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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