A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv244e55



Internal ID20126723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12047020..12744462hg38UCSC Ensembl
chr8:11904529..12601971hg19UCSC Ensembl
chr8:11941938..12646342hg18UCSC Ensembl
chr8:11941938..12646342hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38697443
hg19697443
hg18704405
hg17704405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752198, esv2752196, esv2752199, esv2752197
SamplesBEC_375, BEC_445, BEC_309, BEC_636
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, LONRF1, MIR3926-1, MIR3926-2, USP17L2, USP17L7, ZNF705D
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv244e55
Frequency
Sample Size771
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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