A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12508955



Internal ID2510771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:114283545..114291432hg38UCSC Ensembl
Innerchr6:114283549..114291429hg38UCSC Ensembl
Outerchr6:114283542..114291436hg38UCSC Ensembl
chr6:114604709..114612596hg19UCSC Ensembl
Innerchr6:114604713..114612593hg19UCSC Ensembl
Outerchr6:114604706..114612600hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg387888
hg197888
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610429
Supporting Variants
SamplesHG03073
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12508955
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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