A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605042



Internal ID6992070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51739200..51755547hg38UCSC Ensembl
chr5:51035034..51051381hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3816348
hg1916348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11902097, essv11902096, essv11902099, essv11902095, essv11902098
SamplesNA21097, HG02687, HG02682, NA20888, NA20348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605042
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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