A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987620



Internal ID12630490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21593333..22621405hg38UCSC Ensembl
Innerchr17:21496599..22120732hg19UCSC Ensembl
Innerchr17:21437192..22044859hg18UCSC Ensembl
Innerchr17:21437192..22044859hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381028073
hg19624134
hg18607668
hg17607668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751621
Supporting Variants
SamplesBEC_718
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987620
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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