A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984792



Internal ID12983524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36098851..36145077hg38UCSC Ensembl
Innerchr17:34426245..34472462hg19UCSC Ensembl
Innerchr17:31450358..31496575hg18UCSC Ensembl
Innerchr17:31450358..31496575hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3846227
hg1946218
hg1846218
hg1746218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34522
Supporting Variants
SamplesSPC_18
Known GenesCCL4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984792
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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