A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730781



Internal ID10314417
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 StatusM
Merged Variants
Supporting Variantsessv6786227, essv6670887, essv6943188, essv6903584
SamplesSSM013, SSM023, SSM069, SSM031
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)esv2730781
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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