A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14657354



Internal ID4659170
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631393
Supporting Variants
SamplesNA19041
Known GenesMPHOSPH8, PSPC1, ZMYM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14657354
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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