A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982011



Internal ID12627603
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 StatusS
Merged Variantsesv2751742
Supporting Variants
SamplesBEC_512
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982011
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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