A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612219



Internal ID6999120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:11601124..11603268hg38UCSC Ensembl
Innerchr7:11601124..11603268hg38UCSC Ensembl
Outerchr7:11601023..11603399hg38UCSC Ensembl
chr7:11640751..11642895hg19UCSC Ensembl
Innerchr7:11640751..11642895hg19UCSC Ensembl
Outerchr7:11640650..11643026hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg382145
hg192145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12683037
SamplesHG01440
Known GenesTHSD7A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612219
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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