A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631393



Internal ID6671520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19607399..19909116hg38UCSC Ensembl
chr13:20181539..20483256hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38301718
hg19301718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14657356, essv14657352, essv14657354, essv14657353, essv14657355
SamplesHG01768, NA19184, HG00732, NA20858, NA19041
Known GenesMPHOSPH8, PSPC1, ZMYM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631393
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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