A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614721



Internal ID7001614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117713408..117742701hg38UCSC Ensembl
chr7:117353462..117382755hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3829294
hg1929294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12937386
SamplesHG02442
Known GenesCTTNBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614721
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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