A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13983530



Internal ID3985346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132889012..133114687hg38UCSC Ensembl
chr10:134702516..134928191hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38225676
hg19225676
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625015
Supporting Variants
SamplesNA12154
Known GenesGPR123, LOC399829, TTC40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13983530
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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