A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605656



Internal ID6992594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84713401..84820752hg38UCSC Ensembl
chr5:84009219..84116570hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38107352
hg19107352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1111e214
Supporting Variantsessv11961625, essv11961627, essv11961621, essv11961622, essv11961626, essv11961623, essv11961624, essv11961620
SamplesHG03717, HG03786, NA20875, HG03238, HG03012, HG04023, NA20847, HG02778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605656
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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