A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6711311



Internal ID10123953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9359412..9368988hg38UCSC Ensembl
Outerchr4:9361138..9370714hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg389577
hg199577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727131
Supporting Variants
SamplesSSM042
Known GenesUSP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
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)essv6711311
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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