A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641088



Internal ID7027862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67403755..67408264hg38UCSC Ensembl
Innerchr17:67403826..67408194hg38UCSC Ensembl
Outerchr17:67403685..67408335hg38UCSC Ensembl
chr17:65399871..65404380hg19UCSC Ensembl
Innerchr17:65399942..65404310hg19UCSC Ensembl
Outerchr17:65399801..65404451hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg384510
hg194510
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15727416, essv15727417
SamplesNA19917, HG01810
Known GenesPITPNC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641088
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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