A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6921754



Internal ID9687729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44555570..44556769hg38UCSC Ensembl
Outerchr1:45021242..45022441hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747719
Supporting Variants
SamplesSSM018
Known GenesRNF220
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)essv6921754
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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