A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12002322



Internal ID2004138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103160568..103275759hg38UCSC Ensembl
chr5:102496272..102611460hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38115192
hg19115189
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606059
Supporting Variants
SamplesNA19025
Known GenesC5orf30, PPIP5K2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12002322
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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