A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10991782



Internal ID2538339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42718386..42722944hg38UCSC Ensembl
Innerchr3:42718386..42722944hg38UCSC Ensembl
Outerchr3:42717886..42723444hg38UCSC Ensembl
chr3:42759878..42764436hg19UCSC Ensembl
Innerchr3:42759878..42764436hg19UCSC Ensembl
Outerchr3:42759378..42764936hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg384559
hg194559
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596003
Supporting Variants
SamplesHG02255
Known GenesCCDC13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10991782
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer