A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13415191



Internal ID6055004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:18833106..18856929hg38UCSC Ensembl
chr9:18833104..18856927hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg3823824
hg1923824
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619883
Supporting Variants
SamplesNA19451
Known GenesADAMTSL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13415191
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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