A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982573



Internal ID12628525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52056334..52227334hg38UCSC Ensembl
Innerchr10:53816094..53987094hg19UCSC Ensembl
Innerchr10:53486100..53657100hg18UCSC Ensembl
Innerchr10:53486100..53657100hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38171001
hg19171001
hg18171001
hg17171001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750961
Supporting Variants
SamplesBEC_568
Known GenesPRKG1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982573
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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