A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613504



Internal ID7000400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66218443..66238557hg38UCSC Ensembl
Innerchr7:66218943..66238057hg38UCSC Ensembl
Outerchr7:66217443..66239557hg38UCSC Ensembl
chr7:65683430..65703544hg19UCSC Ensembl
Innerchr7:65683930..65703044hg19UCSC Ensembl
Outerchr7:65682430..65704544hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3820115
hg1920115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12819198
SamplesNA19070
Known GenesTPST1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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