A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12498554



Internal ID2500370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106047896..106058621hg38UCSC Ensembl
Innerchr6:106047896..106058621hg38UCSC Ensembl
Outerchr6:106047396..106059121hg38UCSC Ensembl
chr6:106495771..106506496hg19UCSC Ensembl
Innerchr6:106495771..106506496hg19UCSC Ensembl
Outerchr6:106495271..106506996hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3810726
hg1910726
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610264
Supporting Variants
SamplesHG04183
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12498554
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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