A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894040



Internal ID18838208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:139499096..139522362hg38UCSC Ensembl
Outerchr4:139499096..139522362hg38UCSC Ensembl
Innerchr4:140420250..140443516hg19UCSC Ensembl
Outerchr4:140420250..140443516hg19UCSC Ensembl
Innerchr4:140639700..140662966hg18UCSC Ensembl
Outerchr4:140639700..140662966hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3823267
hg1923267
hg1823267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25801542
Samples
Known GenesSETD7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894040
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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