A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641087



Internal ID6681172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67395081..67405776hg38UCSC Ensembl
Innerchr17:67395081..67405776hg38UCSC Ensembl
Outerchr17:67394581..67406276hg38UCSC Ensembl
chr17:65391197..65401892hg19UCSC Ensembl
Innerchr17:65391197..65401892hg19UCSC Ensembl
Outerchr17:65390697..65402392hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3810696
hg1910696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15727414, essv15727415
SamplesNA19075, NA12489
Known GenesPITPNC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641087
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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