A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986405



Internal ID12629455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73838553..74716223hg38UCSC Ensembl
Innerchr17:71834692..72712362hg19UCSC Ensembl
Innerchr17:69346287..70223957hg18UCSC Ensembl
Innerchr17:69346287..70223957hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38877671
hg19877671
hg18877671
hg17877671
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, CD300LF, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986405
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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