A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985642



Internal ID12625840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133370615..133521615hg38UCSC Ensembl
Innerchr10:135184119..135335119hg19UCSC Ensembl
Innerchr10:135034109..135185109hg18UCSC Ensembl
Innerchr10:135073000..135224000hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38151001
hg19151001
hg18151001
hg17151001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750854
Supporting Variants
SamplesBEC_32
Known GenesECHS1, MIR3944, MTG1, PAOX, SCART1, SPRN
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985642
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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