A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12232860



Internal ID1540627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26610970..26617763hg38UCSC Ensembl
Innerchr6:26611001..26617733hg38UCSC Ensembl
Outerchr6:26610940..26617794hg38UCSC Ensembl
chr6:26611198..26617991hg19UCSC Ensembl
Innerchr6:26611229..26617961hg19UCSC Ensembl
Outerchr6:26611168..26618022hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg386794
hg196794
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608409
Supporting Variants
SamplesHG01413
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12232860
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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