A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631422



Internal ID6671548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20147770..20180246hg38UCSC Ensembl
chr13:20721909..20754385hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3832477
hg1932477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14657999
SamplesHG02855
Known GenesGJA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631422
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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