A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615898



Internal ID6656096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2952268..2969870hg38UCSC Ensembl
chr8:2809790..2827392hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg3817603
hg1917603
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13070080, essv13070079
SamplesNA19058, HG03136
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615898
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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