A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848888



Internal ID10247480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150062185..150062586hg38UCSC Ensembl
Outerchr5:149441748..149442149hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730911
Supporting Variants
SamplesSSM086
Known GenesCSF1R
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)essv6848888
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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