A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608994



Internal ID6649227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52355101..52367511hg38UCSC Ensembl
chr6:52219899..52232309hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3812411
hg1912411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12350929
SamplesNA12044
Known GenesPAQR8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608994
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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