A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693550



Internal ID15073492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239345420..239347218hg38UCSC Ensembl
Innerchr2:239346218..239346420hg38UCSC Ensembl
Outerchr2:239344420..239348218hg38UCSC Ensembl
chr2:240267115..240268913hg19UCSC Ensembl
Innerchr2:240267913..240268115hg19UCSC Ensembl
Outerchr2:240266115..240269913hg19UCSC Ensembl
chr2:239932052..239933850hg18UCSC Ensembl
Innerchr2:239933052..239932850hg18UCSC Ensembl
Outerchr2:239931052..239934850hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3411374
Supporting Variants
SamplesNA19240
Known GenesHDAC4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693550
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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