A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633643



Internal ID6673764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:114234652..114332136hg38UCSC Ensembl
chr13:115000127..115097611hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3897485
hg1997485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14910708, essv14910707
SamplesHG02271, HG01440
Known GenesCDC16, CHAMP1, UPF3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633643
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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