A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890961



Internal ID19185357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:147356758..147409188hg38UCSC Ensembl
Outerchr6:147356758..147409188hg38UCSC Ensembl
Innerchr6:147677894..147730324hg19UCSC Ensembl
Outerchr6:147677894..147730324hg19UCSC Ensembl
Innerchr6:147719587..147772017hg18UCSC Ensembl
Outerchr6:147719587..147772017hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3852431
hg1952431
hg1852431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790859
Samples
Known GenesSTXBP5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890961
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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