A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612067



Internal ID6652282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7228364..7246876hg38UCSC Ensembl
chr7:7267995..7286507hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3818513
hg1918513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12674610
SamplesHG01773
Known GenesC1GALT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612067
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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