A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792364



Internal ID18821962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:121281000..121612572hg38UCSC Ensembl
Innerchr6:121602146..121933718hg19UCSC Ensembl
Innerchr6:121643845..121975417hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38331573
hg19331573
hg18331573
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890934
Supporting Variants
Samples
Known GenesGJA1, TBC1D32
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=93
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792364
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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