A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12584999



Internal ID1385764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151597461..151643019hg38UCSC Ensembl
chr6:151918596..151964154hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3845559
hg1945559
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611270
Supporting Variants
SamplesHG01254
Known GenesCCDC170
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12584999
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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