A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747530



Internal ID9981814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:42277430..42277932hg38UCSC Ensembl
Outerchr1:42743101..42743603hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738834, essv6803598, essv6933335, essv6816613, essv6666918, essv6756571, essv6695909, essv6950594, essv6816943, essv6744966, essv6742164, essv6733504, essv6748754, essv6761874, essv6764180, essv6874728, essv6759077
SamplesSSM010, SSM092, SSM053, SSM006, SSM055, SSM061, SSM078, SSM025, SSM062, SSM030, SSM021, SSM002, SSM063, SSM052, SSM049, SSM008, SSM059
Known GenesFOXJ3
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)esv2747530
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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