A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35004



Internal ID12991040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:61584475..61640752hg38UCSC Ensembl
Innerchr3:61570149..61626426hg19UCSC Ensembl
Innerchr3:61545189..61601466hg18UCSC Ensembl
Innerchr3:61545189..61601466hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3856278
hg1956278
hg1856278
hg1756278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980216, essv6980215, essv6987038
SamplesNA18969
Known GenesPTPRG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35004
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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