A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982272



Internal ID12626779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088416..46723950hg38UCSC Ensembl
Innerchr17:44165782..44801316hg19UCSC Ensembl
Innerchr17:41521600..42156500hg18UCSC Ensembl
Innerchr17:41521600..42156500hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38635535
hg19635535
hg18634901
hg17634901
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)essv6982272
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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