A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336389



Internal ID15183377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5509269..5510867hg38UCSC Ensembl
Innerchr2:5509867..5510269hg38UCSC Ensembl
Outerchr2:5508269..5511867hg38UCSC Ensembl
chr2:5649401..5650999hg19UCSC Ensembl
Innerchr2:5649999..5650401hg19UCSC Ensembl
Outerchr2:5648401..5651999hg19UCSC Ensembl
chr2:5566852..5568450hg18UCSC Ensembl
Innerchr2:5567852..5567450hg18UCSC Ensembl
Outerchr2:5565852..5569450hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2050e59
Supporting Variantsessv8693661
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336389
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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