A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612421



Internal ID6652635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:17207915..17381302hg38UCSC Ensembl
chr7:17247539..17420926hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38173388
hg19173388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12689229, essv12689232, essv12689231, essv12689228, essv12689230
SamplesHG01675, HG02455, HG01779, HG01673, NA19007
Known GenesAHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612421
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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