A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591910



Internal ID6979238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107695526..107824287hg38UCSC Ensembl
chr2:108311982..108440743hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38128762
hg19128762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv724e214
Supporting Variantsessv10609627, essv10609626
SamplesHG01990, NA19010
Known GenesRGPD4-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591910
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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