A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751750



Internal ID12638616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46717868hg38UCSC Ensembl
Innerchr17:44165803..44795234hg19UCSC Ensembl
Innerchr17:41521621..42150418hg18UCSC Ensembl
Innerchr17:41521621..42150418hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38629432
hg19629432
hg18628798
hg17628798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6984869, essv6984868, essv6987696, essv6988860, essv6984867
SamplesSPC_188
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751750
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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