A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348228



Internal ID15195210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235998669..235999967hg38UCSC Ensembl
Innerchr2:235998967..235999669hg38UCSC Ensembl
Outerchr2:235997669..236000967hg38UCSC Ensembl
chr2:236907313..236908611hg19UCSC Ensembl
Innerchr2:236907611..236908313hg19UCSC Ensembl
Outerchr2:236906313..236909611hg19UCSC Ensembl
chr2:236572052..236573350hg18UCSC Ensembl
Innerchr2:236573052..236572350hg18UCSC Ensembl
Outerchr2:236571052..236574350hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2364e59
Supporting Variantsessv8693522
SamplesNA19239
Known GenesAGAP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348228
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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