A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414580



Internal ID15261539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236593070..236594568hg38UCSC Ensembl
Innerchr2:236593568..236594070hg38UCSC Ensembl
Outerchr2:236592070..236595568hg38UCSC Ensembl
chr2:237501713..237503211hg19UCSC Ensembl
Innerchr2:237502211..237502713hg19UCSC Ensembl
Outerchr2:237500713..237504211hg19UCSC Ensembl
chr2:237166452..237167950hg18UCSC Ensembl
Innerchr2:237167452..237166950hg18UCSC Ensembl
Outerchr2:237165452..237168950hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2365e59
Supporting Variantsessv8693525
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414580
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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