A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13070073



Internal ID3071889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2895602..3063047hg38UCSC Ensembl
chr8:2753124..2920569hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38167446
hg19167446
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615895
Supporting Variants
SamplesHG03136
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13070073
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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