A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979442



Internal ID12633499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75602113..75686775hg38UCSC Ensembl
Innerchr2:75829239..75913901hg19UCSC Ensembl
Innerchr2:75682747..75767409hg18UCSC Ensembl
Innerchr2:75740894..75825556hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3884663
hg1984663
hg1884663
hg1784663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34608
Supporting Variants
SamplesNA18555
Known GenesGCFC2, MRPL19
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979442
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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