A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785155



Internal ID18823642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230111817..230131462hg38UCSC Ensembl
Innerchr1:230247564..230267209hg19UCSC Ensembl
Innerchr1:228314187..228333832hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3819646
hg1919646
hg1819646
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891204
Supporting Variants
Samples
Known GenesGALNT2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=9
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785155
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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