A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6784990



Internal ID9843287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13111383..13120030hg38UCSC Ensembl
Outerchr1:13178855..13187503hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388648
hg198649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743964
Supporting Variants
SamplesSSM069
Known GenesHNRNPCP5
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)essv6784990
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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