A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615892



Internal ID6656090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2811468..2947245hg38UCSC Ensembl
chr8:2668990..2804767hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38135778
hg19135778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13070067, essv13070068, essv13070066
SamplesNA19058, HG03136, HG02028
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615892
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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