A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv217e201



Internal ID20125104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132304690..132305603hg38UCSC Ensembl
chr12:132881276..132882189hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38914
hg19914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743285, esv2740844, esv2741908, esv2743224, esv2740816, esv2742197, esv2741594
SamplesSSM027, SSM026, SSM032, SSM033, SSM072, SSM082, SSM063
Known GenesGALNT9
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)dgv217e201
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer