A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12482022



Internal ID2483838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:100750184..100963770hg38UCSC Ensembl
chr6:101198060..101411646hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38213587
hg19213587
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610149
Supporting Variants
SamplesHG03884
Known GenesASCC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12482022
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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