A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14732700



Internal ID2653368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53505644..53527039hg38UCSC Ensembl
chr13:54079779..54101174hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3821396
hg1921396
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632115
Supporting Variants
SamplesHG02348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14732700
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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