A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979818



Internal ID12980806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48278550..48308050hg38UCSC Ensembl
Innerchr12:48672333..48701833hg19UCSC Ensembl
Innerchr12:46958600..46988100hg18UCSC Ensembl
Innerchr12:46958600..46988100hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3829501
hg1929501
hg1829501
hg1729501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34952
Supporting Variants
SamplesNA18635
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979818
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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