A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608104



Internal ID6995034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12017471..12024067hg38UCSC Ensembl
Innerchr6:12017971..12023567hg38UCSC Ensembl
Outerchr6:12016471..12025067hg38UCSC Ensembl
chr6:12017704..12024300hg19UCSC Ensembl
Innerchr6:12018204..12023800hg19UCSC Ensembl
Outerchr6:12016704..12025300hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg386597
hg196597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12189542
SamplesHG00443
Known GenesHIVEP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608104
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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