A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751691



Internal ID12638557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46062296..46717824hg38UCSC Ensembl
Innerchr17:44139662..44795190hg19UCSC Ensembl
Innerchr17:41495480..42150374hg18UCSC Ensembl
Innerchr17:41495480..42150374hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38655529
hg19655529
hg18654895
hg17654895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6983372, essv6983373, essv6986414
SamplesBEC_644
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)esv2751691
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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