A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608569



Internal ID6648802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31826357..31840055hg38UCSC Ensembl
Innerchr6:31826375..31840037hg38UCSC Ensembl
Outerchr6:31826339..31840073hg38UCSC Ensembl
chr6:31794134..31807832hg19UCSC Ensembl
Innerchr6:31794152..31807814hg19UCSC Ensembl
Outerchr6:31794116..31807850hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3813699
hg1913699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12263917
SamplesHG00128
Known GenesC6orf48, HSPA1B, SNORD48, SNORD52
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608569
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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