A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15727432



Internal ID4898164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67442204..67447741hg38UCSC Ensembl
Innerchr17:67442209..67447737hg38UCSC Ensembl
Outerchr17:67442200..67447746hg38UCSC Ensembl
chr17:65438320..65443857hg19UCSC Ensembl
Innerchr17:65438325..65443853hg19UCSC Ensembl
Outerchr17:65438316..65443862hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg385538
hg195538
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641091
Supporting Variants
SamplesNA12546
Known GenesPITPNC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15727432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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