A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693523



Internal ID15117348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235998669..236000067hg38UCSC Ensembl
Innerchr2:235999067..235999669hg38UCSC Ensembl
Outerchr2:235997669..236001067hg38UCSC Ensembl
chr2:236907313..236908711hg19UCSC Ensembl
Innerchr2:236907711..236908313hg19UCSC Ensembl
Outerchr2:236906313..236909711hg19UCSC Ensembl
chr2:236572052..236573450hg18UCSC Ensembl
Innerchr2:236573052..236572450hg18UCSC Ensembl
Outerchr2:236571052..236574450hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353048
Supporting Variants
SamplesNA19240
Known GenesAGAP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693523
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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