A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730094



Internal ID10313730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:38133973..38134810hg38UCSC Ensembl
Outerchr5:38134075..38134912hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6951652, essv6770567, essv6745747, essv6860514, essv6739755, essv6974340, essv6854868, essv6918517, essv6680190, essv6963330, essv6786159
SamplesSSM027, SSM065, SSM087, SSM088, SSM069, SSM029, SSM017, SSM033, SSM055, SSM025, SSM052
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)esv2730094
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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