A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725240



Internal ID10308876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234662841..234663539hg38UCSC Ensembl
Outerchr1:234798587..234799285hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38699
hg19699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864193, essv6914137, essv6892495, essv6917628, essv6844039, essv6816825, essv6786309, essv6972692, essv6733625, essv6742302, essv6818154, essv6950750, essv6836363, essv6753662, essv6946674, essv6669260, essv6868869, essv6777113
SamplesSSM083, SSM024, SSM009, SSM058, SSM090, SSM029, SSM089, SSM017, SSM031, SSM067, SSM085, SSM078, SSM016, SSM053, SSM010, SSM025, SSM098, SSM049
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)esv2725240
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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