A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6813309



Internal ID10215460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220048187..220051079hg38UCSC Ensembl
Outerchr1:220221529..220224421hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382893
hg192893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723128
Supporting Variants
SamplesSSM077
Known GenesRNU5F-1
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)essv6813309
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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