A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747396



Internal ID9981680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49498188..49498763hg38UCSC Ensembl
Outerchr13:50072324..50072899hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970992, essv6773709, essv6873802, essv6823789, essv6720834, essv6924498, essv6831465, essv6732280, essv6716950, essv6870833, essv6809503, essv6806494
SamplesSSM008, SSM075, SSM079, SSM074, SSM028, SSM090, SSM047, SSM018, SSM044, SSM081, SSM091, SSM043
Known GenesPHF11
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)esv2747396
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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