A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720095



Internal ID10303731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:183149036..183150048hg38UCSC Ensembl
Outerchr1:183118171..183119183hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381013
hg191013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933437, essv6793437, essv6910183, essv6972597, essv6692913, essv6773570, essv6718282, essv6937813, essv6686260, essv6722120, essv6883351, essv6679305, essv6675333, essv6832711, essv6961766, essv6840095, essv6813282, essv6689373, essv6941936, essv6777061, essv6925813, essv6825121, essv6836313, essv6914105
SamplesSSM036, SSM083, SSM071, SSM027, SSM045, SSM023, SSM084, SSM021, SSM029, SSM019, SSM035, SSM032, SSM067, SSM044, SSM033, SSM066, SSM082, SSM015, SSM016, SSM080, SSM037, SSM077, SSM022, SSM095
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)esv2720095
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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