A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12643744



Internal ID2304601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167515857..167528105hg38UCSC Ensembl
chr6:167928049..167940297hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3812249
hg1912249
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611671
Supporting Variants
SamplesHG02054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12643744
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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