A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979400



Internal ID12633453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37497072..37575392hg38UCSC Ensembl
Innerchr12:37890874..37969194hg19UCSC Ensembl
Innerchr12:36177141..36255461hg18UCSC Ensembl
Innerchr12:36177141..36255461hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg3878321
hg1978321
hg1878321
hg1778321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34542
Supporting Variants
SamplesNA18547
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979400
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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