A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv65e55



Internal ID22761015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31838572..31928499hg38UCSC Ensembl
chr12:31991506..32081433hg19UCSC Ensembl
chr12:31882773..31972700hg18UCSC Ensembl
chr12:31882773..31972700hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3889928
hg1989928
hg1889928
hg1789928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751087, esv2751086, esv2751089, esv2751088, esv34737, esv35043, esv34926
SamplesSPC_150, BEC_387, NA12753, BEC_826, NA12763, NA12740, SPC_159
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv65e55
Frequency
Sample Size771
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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