A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892992



Internal ID18837126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30769803..30860564hg38UCSC Ensembl
Outerchr17:30769803..30860564hg38UCSC Ensembl
Innerchr17:29096821..29187582hg19UCSC Ensembl
Outerchr17:29096821..29187582hg19UCSC Ensembl
Innerchr17:26120947..26211708hg18UCSC Ensembl
Outerchr17:26120947..26211708hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3890762
hg1990762
hg1890762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25786107
Samples
Known GenesATAD5, CRLF3, SUZ12P1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892992
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer