A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607772



Internal ID6994703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180369739..180384538hg38UCSC Ensembl
chr5:179796739..179811538hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3814800
hg1914800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12152430, essv12152432, essv12152431
SamplesHG01965, NA19310, HG03166
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607772
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer