A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641089



Internal ID7027863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67409222..67412704hg38UCSC Ensembl
Innerchr17:67409372..67412554hg38UCSC Ensembl
Outerchr17:67409072..67412854hg38UCSC Ensembl
chr17:65405338..65408820hg19UCSC Ensembl
Innerchr17:65405488..65408670hg19UCSC Ensembl
Outerchr17:65405188..65408970hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383483
hg193483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15727418
SamplesHG03849
Known GenesPITPNC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641089
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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