A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12116551



Internal ID2118367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160848682..161042768hg38UCSC Ensembl
chr5:160275689..160469775hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38194087
hg19194087
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607382
Supporting Variants
SamplesHG04238
Known GenesATP10B, LOC285629
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12116551
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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