A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12122338



Internal ID2436054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163425992..163454526hg38UCSC Ensembl
chr5:162852998..162881532hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3828535
hg1928535
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607453
Supporting Variants
SamplesHG02147
Known GenesCCNG1, NUDCD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12122338
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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