A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983349



Internal ID12976148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73854266..74667666hg38UCSC Ensembl
Innerchr17:71850405..72663805hg19UCSC Ensembl
Innerchr17:69362000..70175400hg18UCSC Ensembl
Innerchr17:69362000..70175400hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38813401
hg19813401
hg18813401
hg17813401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751770
Supporting Variants
SamplesBEC_641
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RPL38, TTYH2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983349
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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