A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609228



Internal ID6996150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61994687..62210651hg38UCSC Ensembl
chr6:62704592..62920556hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg38215965
hg19215965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12387833
SamplesNA11931
Known GenesKHDRBS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609228
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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