A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14669733



Internal ID4671549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:23873928..23994831hg38UCSC Ensembl
chr13:24448067..24568970hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38120904
hg19120904
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631536
Supporting Variants
SamplesHG03571
Known GenesANKRD20A19P, C1QTNF9B, C1QTNF9B-AS1, MIPEP, SPATA13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14669733
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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