A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12513058



Internal ID4182282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117414146..117423411hg38UCSC Ensembl
Innerchr6:117414146..117423411hg38UCSC Ensembl
Outerchr6:117413872..117423491hg38UCSC Ensembl
chr6:117735309..117744574hg19UCSC Ensembl
Innerchr6:117735309..117744574hg19UCSC Ensembl
Outerchr6:117735035..117744654hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg389266
hg199266
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610491
Supporting Variants
SamplesHG03777
Known GenesROS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12513058
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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