A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751747



Internal ID12638613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46711919hg38UCSC Ensembl
Innerchr17:44165803..44789285hg19UCSC Ensembl
Innerchr17:41521621..42144468hg18UCSC Ensembl
Innerchr17:41521621..42144468hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38623483
hg19623483
hg18622848
hg17622848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6983164, essv6988633
SamplesBEC_549
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)esv2751747
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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