A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15727419



Internal ID443064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67421382..67425248hg38UCSC Ensembl
Innerchr17:67421432..67425199hg38UCSC Ensembl
Outerchr17:67421333..67425298hg38UCSC Ensembl
chr17:65417498..65421364hg19UCSC Ensembl
Innerchr17:65417548..65421315hg19UCSC Ensembl
Outerchr17:65417449..65421414hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383867
hg193867
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641090
Supporting Variants
SamplesHG00138
Known GenesPITPNC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15727419
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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