A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751734



Internal ID12638600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46085231..46719411hg38UCSC Ensembl
Innerchr17:44162597..44796777hg19UCSC Ensembl
Innerchr17:41518415..42151961hg18UCSC Ensembl
Innerchr17:41518415..42151961hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38634181
hg19634181
hg18633547
hg17633547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6988403, essv6981426, essv6981427
SamplesBEC_191
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)esv2751734
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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