A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11956848



Internal ID4786362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81480231..81550780hg38UCSC Ensembl
chr5:80776050..80846599hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3870550
hg1970550
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605596
Supporting Variants
SamplesNA11918
Known GenesSSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11956848
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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