A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13196959



Internal ID1285815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50239831..50285733hg38UCSC Ensembl
chr8:51152391..51198293hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3845903
hg1945903
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617164
Supporting Variants
SamplesHG01131
Known GenesSNTG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13196959
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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