A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607912



Internal ID6648151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2623291..2776818hg38UCSC Ensembl
chr6:2623525..2777052hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38153528
hg19153528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12177299
SamplesHG03940
Known GenesC6orf195, MYLK4, WRNIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607912
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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