A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11953062



Internal ID1954878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79672056..79773955hg38UCSC Ensembl
chr5:78967879..79069778hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38101900
hg19101900
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605544
Supporting Variants
SamplesHG03372
Known GenesCMYA5, PAPD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11953062
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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