A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608105



Internal ID6995035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12046580..12055288hg38UCSC Ensembl
Innerchr6:12046625..12055243hg38UCSC Ensembl
Outerchr6:12046535..12055333hg38UCSC Ensembl
chr6:12046813..12055521hg19UCSC Ensembl
Innerchr6:12046858..12055476hg19UCSC Ensembl
Outerchr6:12046768..12055566hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg388709
hg198709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12189543
SamplesHG00133
Known GenesHIVEP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608105
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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