A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987276



Internal ID12637420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45184836..45732821hg38UCSC Ensembl
Innerchr2:45411975..45959960hg19UCSC Ensembl
Innerchr2:45265479..45813464hg18UCSC Ensembl
Innerchr2:45323626..45871611hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38547986
hg19547986
hg18547986
hg17547986
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)essv6987276
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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