A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11956863



Internal ID5210034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81623063..81636387hg38UCSC Ensembl
chr5:80918882..80932206hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3813325
hg1913325
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605601
Supporting Variants
SamplesNA18618
Known GenesSSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11956863
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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