A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12537340



Internal ID5984997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125839228..125840626hg38UCSC Ensembl
Innerchr6:125839271..125840584hg38UCSC Ensembl
Outerchr6:125839186..125840669hg38UCSC Ensembl
chr6:126160374..126161772hg19UCSC Ensembl
Innerchr6:126160417..126161730hg19UCSC Ensembl
Outerchr6:126160332..126161815hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg381399
hg191399
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610698
Supporting Variants
SamplesNA19391
Known GenesNCOA7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12537340
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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