A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610808



Internal ID6997725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131259718..131282973hg38UCSC Ensembl
chr6:131580858..131604113hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3823256
hg1923256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12552758
SamplesHG03977
Known GenesAKAP7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610808
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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