A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607383



Internal ID6647624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160848682..161042768hg38UCSC Ensembl
chr5:160275689..160469775hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38194087
hg19194087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12116552
SamplesHG01528
Known GenesATP10B, LOC285629
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607383
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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