A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985833



Internal ID12637428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45222810..45732810hg38UCSC Ensembl
Innerchr2:45449949..45959949hg19UCSC Ensembl
Innerchr2:45303453..45813453hg18UCSC Ensembl
Innerchr2:45361600..45871600hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38510001
hg19510001
hg18510001
hg17510001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751894
Supporting Variants
SamplesSPC_63
Known GenesLINC01121, PRKCE, SRBD1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985833
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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