A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605375



Internal ID6992397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68994387..68997396hg38UCSC Ensembl
chr5:68290214..68293223hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg383010
hg193010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11938299, essv11938298, essv11938301, essv11938297, essv11938302, essv11938300
SamplesHG01802, HG03079, HG04029, HG00614, HG03401, NA19074
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605375
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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