A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751741



Internal ID12638607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088416..46711919hg38UCSC Ensembl
Innerchr17:44165782..44789285hg19UCSC Ensembl
Innerchr17:41521600..42144468hg18UCSC Ensembl
Innerchr17:41521600..42144468hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38623504
hg19623504
hg18622869
hg17622869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6980738, essv6980739, essv6986060, essv6980737
SamplesBEC_126
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)esv2751741
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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