A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6786227



Internal ID10191087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131784959..131785156hg38UCSC Ensembl
Outerchr5:131120652..131120849hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730780, esv2730781
Supporting Variants
SamplesSSM069
Known GenesFNIP1
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)essv6786227
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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