A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12000177



Internal ID5643990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102189118..102216691hg38UCSC Ensembl
chr5:101524822..101552395hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3827574
hg1927574
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606039
Supporting Variants
SamplesNA19064
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12000177
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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