A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12481603



Internal ID3616428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:100236193..100246920hg38UCSC Ensembl
Innerchr6:100236200..100246914hg38UCSC Ensembl
Outerchr6:100236187..100246927hg38UCSC Ensembl
chr6:100684069..100694796hg19UCSC Ensembl
Innerchr6:100684076..100694790hg19UCSC Ensembl
Outerchr6:100684063..100694803hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3810728
hg1910728
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610140
Supporting Variants
SamplesHG03209
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12481603
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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