A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986125



Internal ID12626797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46723974hg38UCSC Ensembl
Innerchr17:44165803..44801340hg19UCSC Ensembl
Innerchr17:41521621..42156524hg18UCSC Ensembl
Innerchr17:41521621..42156524hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38635538
hg19635538
hg18634904
hg17634904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751695
Supporting Variants
SamplesBEC_41
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)essv6986125
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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