A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726804



Internal ID10310440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1524015..1524744hg38UCSC Ensembl
Outerchr4:1525742..1526471hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670127, essv6785782, essv6774107, essv6845598, essv6686738, essv6724188, essv6955982, essv6790443, essv6777619, essv6934065, essv6973702, essv6922503, essv6693566, essv6854334, essv6714955, essv6674310, essv6926301, essv6848174, essv6914577, essv6947220, essv6700414, essv6942655
SamplesSSM024, SSM087, SSM039, SSM009, SSM002, SSM023, SSM021, SSM018, SSM069, SSM029, SSM026, SSM019, SSM035, SSM031, SSM067, SSM086, SSM066, SSM007, SSM016, SSM005, SSM037, SSM043
Known Genes
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)esv2726804
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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