A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv167e201



Internal ID22759525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7842493..7972788hg38UCSC Ensembl
chr12:7995089..8125384hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38130296
hg19130296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743045, esv2741591, esv2742266, esv2743178, esv2741618, esv2745495, esv2742724, esv2741174, esv2742844, esv2741087
SamplesSSM008, SSM027, SSM046, SSM064, SSM079, SSM013, SSM009, SSM002, SSM028, SSM084, SSM069, SSM029, SSM017, SSM003, SSM001, SSM066, SSM006, SSM085, SSM007, SSM022, SSM010, SSM025, SSM043, SSM056, SSM063
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)dgv167e201
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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