A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723929



Internal ID10307565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:225815109..225815478hg38UCSC Ensembl
Outerchr1:226002811..226003180hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692961, essv6801762, essv6878298, essv6898758, essv6918229, essv6937852, essv6747929, essv6707417, essv6697119, essv6786198, essv6859407, essv6874849, essv6883392, essv6689420, essv6785172, essv6813316, essv6836351, essv6821353, essv6797635, essv6892481, essv6868862, essv6756677, essv6714416, essv6718324
SamplesSSM100, SSM059, SSM036, SSM083, SSM079, SSM038, SSM009, SSM073, SSM088, SSM041, SSM092, SSM090, SSM069, SSM003, SSM044, SSM072, SSM037, SSM077, SSM022, SSM095, SSM043, SSM098, SSM056, SSM012
Known GenesEPHX1
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)esv2723929
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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