A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12319775



Internal ID4391859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35805410..35819929hg38UCSC Ensembl
chr6:35773187..35787706hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3814520
hg1914520
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608694
Supporting Variants
SamplesHG03913
Known GenesLHFPL5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12319775
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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