A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724130



Internal ID9958431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29818197..29818656hg38UCSC Ensembl
Outerchr22:30214186..30214645hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967624, essv6682652, essv6946260, essv6667810, essv6905937, essv6729421, essv6717963, essv6902338, essv6784755, essv6843682, essv6933076, essv6875230, essv6948607, essv6793065, essv6950316, essv6804284, essv6954478, essv6696808, essv6689125, essv6674942, essv6925492, essv6733300
SamplesSSM027, SSM024, SSM046, SSM011, SSM013, SSM073, SSM023, SSM084, SSM047, SSM018, SSM035, SSM003, SSM031, SSM033, SSM068, SSM020, SSM037, SSM070, SSM025, SSM004, SSM043, SSM012
Known GenesASCC2
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)esv2724130
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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