A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605657



Internal ID6992595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84714791..84818532hg38UCSC Ensembl
chr5:84010609..84114350hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38103742
hg19103742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1111e214
Supporting Variantsessv11961636, essv11961634, essv11961629, essv11961633, essv11961632, essv11961628, essv11961631, essv11961630, essv11961635
SamplesHG03717, HG03762, HG03786, NA20875, HG03012, HG04023, NA20847, HG02778, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605657
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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