A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12645352



Internal ID3042281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168199243..168244976hg38UCSC Ensembl
chr6:168599923..168645656hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3845734
hg1945734
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611687
Supporting Variants
SamplesHG02678
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12645352
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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