A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724273



Internal ID10307909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228174119..228174459hg38UCSC Ensembl
Outerchr1:228361820..228362160hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859412, essv6951818, essv6669241, essv6961832, essv6853506, essv6818131, essv6946664, essv6955032, essv6902715, essv6816811, essv6972674, essv6871861, essv6864180, essv6847313, essv6845510
SamplesSSM027, SSM024, SSM011, SSM087, SSM013, SSM088, SSM029, SSM026, SSM089, SSM031, SSM086, SSM078, SSM010, SSM091, SSM004
Known GenesIBA57
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)esv2724273
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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