A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693529



Internal ID15036268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237128470..237131968hg38UCSC Ensembl
Innerchr2:237129470..237130968hg38UCSC Ensembl
Outerchr2:237127470..237132968hg38UCSC Ensembl
chr2:238037113..238040611hg19UCSC Ensembl
Innerchr2:238038113..238039611hg19UCSC Ensembl
Outerchr2:238036113..238041611hg19UCSC Ensembl
chr2:237701852..237705350hg18UCSC Ensembl
Innerchr2:237702852..237704350hg18UCSC Ensembl
Outerchr2:237700852..237706350hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383499
hg193499
hg183499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3337585
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693529
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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