A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12119132



Internal ID1668434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162178578..162321820hg38UCSC Ensembl
chr5:161605584..161748826hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38143243
hg19143243
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607419
Supporting Variants
SamplesHG01528
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12119132
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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