A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10932718



Internal ID4920341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14912760..14994553hg38UCSC Ensembl
chr3:14954267..15036060hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3881794
hg1981794
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595377
Supporting Variants
SamplesNA12760
Known GenesFGD5, FGD5-AS1, NR2C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10932718
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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