A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12464289



Internal ID381754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:93192319..93201471hg38UCSC Ensembl
Innerchr6:93192319..93201471hg38UCSC Ensembl
Outerchr6:93191819..93201971hg38UCSC Ensembl
chr6:93902037..93911189hg19UCSC Ensembl
Innerchr6:93902037..93911189hg19UCSC Ensembl
Outerchr6:93901537..93911689hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg389153
hg199153
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609983
Supporting Variants
SamplesHG00111
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12464289
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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