A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615396



Internal ID7002285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147406479..147445294hg38UCSC Ensembl
chr7:147103571..147142386hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3838816
hg1938816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12998409, essv12998410
SamplesHG00365, HG00353
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615396
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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