A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12002342



Internal ID3521797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103264124..103378074hg38UCSC Ensembl
chr5:102599825..102713775hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38113951
hg19113951
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606064
Supporting Variants
SamplesHG03118
Known GenesC5orf30
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12002342
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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