A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12119136



Internal ID1837933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162191258..162215988hg38UCSC Ensembl
chr5:161618264..161642994hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3824731
hg1924731
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607422
Supporting Variants
SamplesHG01705
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12119136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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