A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890934



Internal ID19185330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:121281000..121612572hg38UCSC Ensembl
Outerchr6:121281000..121612572hg38UCSC Ensembl
Innerchr6:121602146..121933718hg19UCSC Ensembl
Outerchr6:121602146..121933718hg19UCSC Ensembl
Innerchr6:121643845..121975417hg18UCSC Ensembl
Outerchr6:121643845..121975417hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38331573
hg19331573
hg18331573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792364
Samples
Known GenesGJA1, TBC1D32
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890934
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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