A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12116489



Internal ID5170292
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607363
Supporting Variants
SamplesNA18599
Known GenesPWWP2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12116489
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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