A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747162



Internal ID9981446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25071003..25071354hg38UCSC Ensembl
Outerchr13:25645141..25645492hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765847, essv6831434, essv6706328, essv6835798, essv6749778, essv6866887, essv6783681, essv6761072, essv6702586
SamplesSSM011, SSM039, SSM061, SSM068, SSM081, SSM040, SSM010, SSM056, SSM063
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)esv2747162
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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