A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12537193



Internal ID5104966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125417006..125421441hg38UCSC Ensembl
Innerchr6:125417006..125421441hg38UCSC Ensembl
Outerchr6:125416857..125421619hg38UCSC Ensembl
chr6:125738152..125742587hg19UCSC Ensembl
Innerchr6:125738152..125742587hg19UCSC Ensembl
Outerchr6:125738003..125742765hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg384436
hg194436
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610687
Supporting Variants
SamplesNA18555
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12537193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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