A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606518



Internal ID6993454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120342319..120349908hg38UCSC Ensembl
Innerchr5:120342819..120349408hg38UCSC Ensembl
Outerchr5:120341319..120350908hg38UCSC Ensembl
chr5:119678014..119685603hg19UCSC Ensembl
Innerchr5:119678514..119685103hg19UCSC Ensembl
Outerchr5:119677014..119686603hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg387590
hg197590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12038548, essv12038549
SamplesHG03058, HG03451
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606518
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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