A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613127



Internal ID7000025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50485534..50514219hg38UCSC Ensembl
chr7:50553232..50581917hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3828686
hg1928686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12769135, essv12769133, essv12769134
SamplesNA19020, NA19445, NA20528
Known GenesDDC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613127
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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