A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988349



Internal ID12626052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32151499..32534399hg38UCSC Ensembl
Innerchr12:32304433..32687333hg19UCSC Ensembl
Innerchr12:32195700..32578600hg18UCSC Ensembl
Innerchr12:32195700..32578600hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38382901
hg19382901
hg18382901
hg17382901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751096
Supporting Variants
SamplesBEC_345
Known GenesBICD1, FGD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988349
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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