A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981148



Internal ID12626200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46127056..46733750hg38UCSC Ensembl
Innerchr17:44204422..44811116hg19UCSC Ensembl
Innerchr17:41560200..42166300hg18UCSC Ensembl
Innerchr17:41560200..42166300hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38606695
hg19606695
hg18606101
hg17606101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751756
Supporting Variants
SamplesBEC_359
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981148
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer