A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13285669



Internal ID2564585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:110028730..110035624hg38UCSC Ensembl
chr8:111040959..111047853hg19UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg386895
hg196895
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618387
Supporting Variants
SamplesHG02277
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13285669
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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