A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612241



Internal ID6999142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12133783..12137321hg38UCSC Ensembl
Innerchr7:12133817..12137287hg38UCSC Ensembl
Outerchr7:12133749..12137355hg38UCSC Ensembl
chr7:12173409..12176947hg19UCSC Ensembl
Innerchr7:12173443..12176913hg19UCSC Ensembl
Outerchr7:12173375..12176981hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg383539
hg193539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12683627
SamplesHG03905
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612241
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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