A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv246e55



Internal ID22761196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12362740..12728752hg38UCSC Ensembl
chr8:12220249..12586261hg19UCSC Ensembl
chr8:12264620..12630632hg18UCSC Ensembl
chr8:12264620..12630632hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38366013
hg19366013
hg18366013
hg17366013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752206, esv2752201, esv2752202
SamplesBEC_567, BEC_425, SPC_189
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732, LONRF1, MIR3926-1, MIR3926-2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv246e55
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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