A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6690281



Internal ID10106378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131784919..131785169hg38UCSC Ensembl
Outerchr5:131120612..131120862hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730780
Supporting Variants
SamplesSSM036
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)essv6690281
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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