A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985832



Internal ID12637429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45184836..45731112hg38UCSC Ensembl
Innerchr2:45411975..45958251hg19UCSC Ensembl
Innerchr2:45265479..45811755hg18UCSC Ensembl
Innerchr2:45323626..45869902hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38546277
hg19546277
hg18546277
hg17546277
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985832
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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