A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613006



Internal ID6999904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43996772..44018579hg38UCSC Ensembl
chr7:44036371..44058178hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3821808
hg1921808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12756593, essv12756591, essv12756592, essv12756594
SamplesNA18861, NA19041, HG03473, HG03442
Known GenesPOLR2J4, SPDYE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613006
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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