A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15231122



Internal ID5232938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42907489..42978310hg38UCSC Ensembl
chr15:43199687..43270508hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg3870822
hg1970822
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636285
Supporting Variants
SamplesNA19920
Known GenesTTBK2, UBR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15231122
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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