A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726742



Internal ID9961050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:999540..1000116hg38UCSC Ensembl
Outerchr4:993328..993904hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38577
hg19577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742663, essv6785773, essv6730302, essv6922494, essv6707884, essv6748303, essv6962697, essv6726536, essv6918166, essv6777610, essv6955969, essv6711280, essv6929835, essv6840667, essv6854325, essv6973694
SamplesSSM027, SSM046, SSM087, SSM042, SSM041, SSM084, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM067, SSM020, SSM053, SSM056
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)esv2726742
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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