A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631910



Internal ID6672035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42969345..43169322hg38UCSC Ensembl
chr13:43543481..43743458hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38199978
hg19199978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv330e214
Supporting Variantsessv14710018, essv14710017
SamplesHG03937, HG02814
Known GenesDNAJC15, EPSTI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631910
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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