A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693553



Internal ID15006911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239345620..239347318hg38UCSC Ensembl
Innerchr2:239346318..239346620hg38UCSC Ensembl
Outerchr2:239344620..239348318hg38UCSC Ensembl
chr2:240267315..240269013hg19UCSC Ensembl
Innerchr2:240268013..240268315hg19UCSC Ensembl
Outerchr2:240266315..240270013hg19UCSC Ensembl
chr2:239932252..239933950hg18UCSC Ensembl
Innerchr2:239933252..239932950hg18UCSC Ensembl
Outerchr2:239931252..239934950hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387710
Supporting Variants
SamplesNA19238
Known GenesHDAC4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693553
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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