A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv258e201



Internal ID20125145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113831856..113832175hg38UCSC Ensembl
chr13:114534829..114535148hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2748407, esv2748405
SamplesSSM036, SSM083, SSM027, SSM097, SSM029, SSM086, SSM034
Known GenesGAS6, GAS6-AS1
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)dgv258e201
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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