A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722106



Internal ID9956405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207502410..207681369hg38UCSC Ensembl
Outerchr1:207675755..207854714hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38178960
hg19178960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756667, essv6761955, essv6937830, essv6769684, essv6793462, essv6845253, essv6864155, essv6886102, essv6764283, essv6756666, essv6720009, essv6917594, essv6789314, essv6720020, essv6840112, essv6951618, essv6703995, essv6697106, essv6738966, essv6785151, essv6871840, essv6933467, essv6844015, essv6836334, essv6682961, essv6718303, essv6871839, essv6769683, essv6816783, essv6807506, essv6696843, essv6696832, essv6840113, essv6718304
SamplesSSM059, SSM083, SSM071, SSM075, SSM011, SSM065, SSM038, SSM084, SSM021, SSM069, SSM096, SSM062, SSM089, SSM017, SSM044, SSM006, SSM085, SSM040, SSM007, SSM078, SSM022, SSM091, SSM070, SSM034, SSM004, SSM052, SSM063
Known GenesCR1, CR1L
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)esv2722106
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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