A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12389915



Internal ID5741377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63784656..63787201hg38UCSC Ensembl
Innerchr6:63784656..63787201hg38UCSC Ensembl
Outerchr6:63784434..63787373hg38UCSC Ensembl
chr6:64494549..64497094hg19UCSC Ensembl
Innerchr6:64494549..64497094hg19UCSC Ensembl
Outerchr6:64494327..64497266hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg382546
hg192546
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609268
Supporting Variants
SamplesNA19116
Known GenesEYS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12389915
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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