A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12720500



Internal ID2722316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31646533..31888101hg38UCSC Ensembl
chr7:31686147..31927714hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38241569
hg19241568
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612723
Supporting Variants
SamplesHG00457
Known GenesCCDC129, PDE1C, PPP1R17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12720500
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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