A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10931423



Internal ID3859785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13577629..13679552hg38UCSC Ensembl
chr3:13619129..13721051hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38101924
hg19101923
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595350
Supporting Variants
SamplesHG03490
Known GenesFBLN2, LINC00620
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10931423
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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