A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693565



Internal ID15036517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241516364..241517962hg38UCSC Ensembl
Innerchr2:241516962..241517364hg38UCSC Ensembl
Outerchr2:241515364..241518962hg38UCSC Ensembl
chr2:242455779..242457377hg19UCSC Ensembl
Innerchr2:242456377..242456779hg19UCSC Ensembl
Outerchr2:242454779..242458377hg19UCSC Ensembl
chr2:242104452..242106050hg18UCSC Ensembl
Innerchr2:242105452..242105050hg18UCSC Ensembl
Outerchr2:242103452..242107050hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3419715
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693565
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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