A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12323874



Internal ID3145215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39625213..39669054hg38UCSC Ensembl
chr6:39592989..39636830hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3843842
hg1943842
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608761
Supporting Variants
SamplesHG02771
Known GenesKIF6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12323874
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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