A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668640



Internal ID9588059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172838136..172839579hg38UCSC Ensembl
Outerchr2:172837979..172839764hg38UCSC Ensembl
Innerchr2:173702864..173704307hg19UCSC Ensembl
Outerchr2:173702707..173704492hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381786
hg191786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5900628, essv5894103
SamplesNA18856, HG01101
Known GenesRAPGEF4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668640
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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