A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609511



Internal ID6996432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73477993..73479278hg38UCSC Ensembl
Innerchr6:73477993..73479278hg38UCSC Ensembl
Outerchr6:73477751..73479539hg38UCSC Ensembl
chr6:74187716..74189001hg19UCSC Ensembl
Innerchr6:74187716..74189001hg19UCSC Ensembl
Outerchr6:74187474..74189262hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381286
hg191286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12420329, essv12420328
SamplesHG00273, HG00342
Known GenesMTO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609511
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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