A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727131



Internal ID10310767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9359405..9369032hg38UCSC Ensembl
Outerchr4:9361131..9370758hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg389628
hg199628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767088, essv6755310, essv6711311, essv6962765, essv6794089
SamplesSSM008, SSM071, SSM027, SSM064, SSM042
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)esv2727131
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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