A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613754



Internal ID7000649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76045674..76060185hg38UCSC Ensembl
chr7:75674992..75689503hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3814512
hg1914512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848861
SamplesHG04042
Known GenesMDH2, STYXL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613754
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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