A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607363



Internal ID6994297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160102962..160108355hg38UCSC Ensembl
Innerchr5:160102962..160108355hg38UCSC Ensembl
Outerchr5:160102640..160108714hg38UCSC Ensembl
chr5:159529969..159535362hg19UCSC Ensembl
Innerchr5:159529969..159535362hg19UCSC Ensembl
Outerchr5:159529647..159535721hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg385394
hg195394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12116488, essv12116489
SamplesNA18599, HG02031
Known GenesPWWP2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607363
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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