A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11953032



Internal ID3740387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79627227..79653078hg38UCSC Ensembl
chr5:78923050..78948901hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3825852
hg1925852
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605540
Supporting Variants
SamplesHG03372
Known GenesPAPD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11953032
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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