A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv245e55



Internal ID22761195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12362740..12585653hg38UCSC Ensembl
chr8:12220249..12443162hg19UCSC Ensembl
chr8:12264620..12487533hg18UCSC Ensembl
chr8:12264620..12487533hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38222914
hg19222914
hg18222914
hg17222914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752204, esv2752205, esv2752200, esv2752203
SamplesBEC_589, BEC_596, BEC_354, BEC_556
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv245e55
Frequency
Sample Size771
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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