A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617132



Internal ID7004018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48982778..48997500hg38UCSC Ensembl
chr8:49895337..49910059hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3814723
hg1914723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1394e214
Supporting Variantsessv13194995
SamplesHG02121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617132
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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