A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607771



Internal ID6994702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180369514..180399455hg38UCSC Ensembl
Innerchr5:180369664..180399305hg38UCSC Ensembl
Outerchr5:180369364..180399605hg38UCSC Ensembl
chr5:179796514..179826455hg19UCSC Ensembl
Innerchr5:179796664..179826305hg19UCSC Ensembl
Outerchr5:179796364..179826605hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3829942
hg1929942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12152429, essv12152427, essv12152426, essv12152428
SamplesHG01965, HG00610, NA19917, HG00266
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607771
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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