A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10612597



Internal ID614413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109591382..109668039hg38UCSC Ensembl
chr2:110348959..110425616hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3876658
hg1976658
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591944
Supporting Variants
SamplesHG03120
Known GenesSEPT10, SOWAHC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10612597
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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