A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13128829



Internal ID3130645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17598147..17735569hg38UCSC Ensembl
chr8:17455656..17593078hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38137423
hg19137423
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616492
Supporting Variants
SamplesNA19720
Known GenesMTUS1, PDGFRL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13128829
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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