A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693570



Internal ID14727132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241589864..241591262hg38UCSC Ensembl
Innerchr2:241590262..241590864hg38UCSC Ensembl
Outerchr2:241588864..241592262hg38UCSC Ensembl
chr2:242529279..242530677hg19UCSC Ensembl
Innerchr2:242529677..242530279hg19UCSC Ensembl
Outerchr2:242528279..242531677hg19UCSC Ensembl
chr2:242177952..242179350hg18UCSC Ensembl
Innerchr2:242178952..242178350hg18UCSC Ensembl
Outerchr2:242176952..242180350hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3331030
Supporting Variants
SamplesNA19240
Known GenesTHAP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693570
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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