A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610806



Internal ID6997723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131101055..131139174hg38UCSC Ensembl
chr6:131422195..131460314hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3838120
hg1938120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12551743, essv12551742
SamplesNA18924, HG03135
Known GenesAKAP7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610806
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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