A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631903



Internal ID6672028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42914540..43269696hg38UCSC Ensembl
chr13:43488676..43843832hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38355157
hg19355157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv329e214
Supporting Variantsessv14709926, essv14709927, essv14709928, essv14709929
SamplesHG00341, HG03937, HG01142, HG02814
Known GenesDNAJC15, ENOX1, EPSTI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631903
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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