A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987634



Internal ID12630581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46084918..46717868hg38UCSC Ensembl
Innerchr17:44162284..44795234hg19UCSC Ensembl
Innerchr17:41518102..42150418hg18UCSC Ensembl
Innerchr17:41518102..42150418hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38632951
hg19632951
hg18632317
hg17632317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751733
Supporting Variants
SamplesBEC_722
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)essv6987634
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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