A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5930864



Internal ID9272691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67442219..67447757hg38UCSC Ensembl
chr17:65438335..65443873hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg385539
hg195539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663417
Supporting Variants
SamplesNA12413
Known GenesPITPNC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5930864
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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