A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5404794



Internal ID9534914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167973442..167979672hg38UCSC Ensembl
chr2:168829952..168836182hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg386231
hg196231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668311
Supporting Variants
SamplesNA19065
Known GenesSTK39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5404794
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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