A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv192e201



Internal ID22759550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78803675..78804022hg38UCSC Ensembl
chr12:79197455..79197802hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2746104, esv2746106
SamplesSSM027, SSM011, SSM097, SSM039, SSM013, SSM093, SSM088, SSM041, SSM023, SSM069, SSM096, SSM026, SSM089, SSM086, SSM080, SSM037, SSM076
Known Genes
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)dgv192e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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