A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872611



Internal ID10268832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150062207..150062579hg38UCSC Ensembl
Outerchr5:149441770..149442142hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730911
Supporting Variants
SamplesSSM091
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)essv6872611
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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