A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980216



Internal ID12981450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:61597403..61640752hg38UCSC Ensembl
Innerchr3:61583077..61626426hg19UCSC Ensembl
Innerchr3:61558117..61601466hg18UCSC Ensembl
Innerchr3:61558117..61601466hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3843350
hg1943350
hg1843350
hg1743350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35004
Supporting Variants
SamplesNA18969
Known GenesPTPRG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980216
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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