A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353426



Internal ID15200407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241516364..241518062hg38UCSC Ensembl
Innerchr2:241517062..241517364hg38UCSC Ensembl
Outerchr2:241515364..241519062hg38UCSC Ensembl
chr2:242455779..242457477hg19UCSC Ensembl
Innerchr2:242456477..242456779hg19UCSC Ensembl
Outerchr2:242454779..242458477hg19UCSC Ensembl
chr2:242104452..242106150hg18UCSC Ensembl
Innerchr2:242105452..242105150hg18UCSC Ensembl
Outerchr2:242103452..242107150hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2378e59
Supporting Variantsessv8693566
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353426
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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