A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790859



Internal ID19177592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:147356758..147409188hg38UCSC Ensembl
Innerchr6:147677894..147730324hg19UCSC Ensembl
Innerchr6:147719587..147772017hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3852431
hg1952431
hg1852431
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890961
Supporting Variants
Samples
Known GenesSTXBP5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790859
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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