A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848861



Internal ID4547751
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613754
Supporting Variants
SamplesHG04042
Known GenesMDH2, STYXL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848861
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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