A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv166e201



Internal ID22759524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7827227..7939801hg38UCSC Ensembl
chr12:7979823..8092397hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38112575
hg19112575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741801, esv2741066, esv2742237, esv2742389, esv2742403, esv2742723, esv2740788, esv2742843, esv2742769, esv2741964, esv2742725, esv2740937, esv2742590, esv2742410, esv2741256, esv2741870, esv2741181
SamplesSSM036, SSM083, SSM071, SSM046, SSM011, SSM097, SSM074, SSM088, SSM002, SSM041, SSM069, SSM089, SSM017, SSM031, SSM044, SSM014, SSM015
Known GenesSLC2A14, SLC2A3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv166e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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