A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613479



Internal ID7000375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65749070..65761136hg38UCSC Ensembl
chr7:65214057..65226123hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3812067
hg1912067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12815821, essv12815822, essv12815820
SamplesHG00173, HG00319, HG00362
Known GenesCCT6P1, LOC441242, SNORA22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613479
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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