A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15727414



Internal ID5729230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67395081..67405776hg38UCSC Ensembl
Innerchr17:67395081..67405776hg38UCSC Ensembl
Outerchr17:67394581..67406276hg38UCSC Ensembl
chr17:65391197..65401892hg19UCSC Ensembl
Innerchr17:65391197..65401892hg19UCSC Ensembl
Outerchr17:65390697..65402392hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3810696
hg1910696
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641087
Supporting Variants
SamplesNA12489
Known GenesPITPNC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15727414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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