A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12608415



Internal ID2551063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:159391029..159397975hg38UCSC Ensembl
chr6:159812061..159819007hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386947
hg196947
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611414
Supporting Variants
SamplesHG02265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12608415
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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