A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv62e55



Internal ID20126541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31072776..31261539hg38UCSC Ensembl
chr12:31225710..31414473hg19UCSC Ensembl
chr12:31116977..31305740hg18UCSC Ensembl
chr12:31116977..31305740hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38188764
hg19188764
hg18188764
hg17188764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751060, esv34757, esv2751058, esv2751070, esv2751061, esv2751052, esv2751069, esv2751057, esv2751063, esv2751068, esv2751062, esv34800, esv2751049, esv2751066, esv34809, esv2751050, esv2751051, esv2751055, esv2751067, esv35017, esv34653, esv2751065, esv2751064, esv2751056, esv35119, esv2751059, esv34728
SamplesBEC_305, SPC_124, NA19210, BEC_94, BEC_651, BEC_447, BEC_734, BEC_677, NA12763, BEC_516, BEC_562, BEC_385, NA12751, BEC_714, BEC_531, BEC_311, BEC_104, NA12156, SPC_10, NA12003, NA10838, NA18852, SPC_18, BEC_678, BEC_644, BEC_715, BEC_406
Known GenesDDX11, DDX11-AS1
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)dgv62e55
Frequency
Sample Size771
Observed Gain81
Observed Loss0
Observed Complex0
Frequencyn/a


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