A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726744



Internal ID9961052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:999760..1000052hg38UCSC Ensembl
Outerchr4:993548..993840hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730302, essv6726536, essv6962697, essv6707884, essv6785773, essv6955969
SamplesSSM027, SSM041, SSM047, SSM069, SSM046, SSM026
Known GenesIDUA
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)esv2726744
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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