A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984867



Internal ID12636956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46717868hg38UCSC Ensembl
Innerchr17:44165803..44795234hg19UCSC Ensembl
Innerchr17:41521621..42150418hg18UCSC Ensembl
Innerchr17:41521621..42150418hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38629432
hg19629432
hg18628798
hg17628798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751750
Supporting Variants
SamplesSPC_188
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)essv6984867
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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