A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864128



Internal ID12882158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43693751..43693764hg38UCSC Ensembl
Innerchr3:43693753..43693762hg38UCSC Ensembl
Outerchr3:43693749..43693766hg38UCSC Ensembl
chr3:43735243..43735256hg19UCSC Ensembl
Innerchr3:43735245..43735254hg19UCSC Ensembl
Outerchr3:43735241..43735258hg19UCSC Ensembl
chr3:43710247..43710260hg18UCSC Ensembl
Innerchr3:43710249..43710258hg18UCSC Ensembl
Outerchr3:43710245..43710262hg18UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3400265
Supporting Variants
SamplesNA11992
Known GenesABHD5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864128
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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