A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724262



Internal ID10307898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228173571..228174784hg38UCSC Ensembl
Outerchr1:228361272..228362485hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381214
hg191214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750751, essv6859412, essv6951818, essv6669241, essv6961832, essv6853506, essv6818131, essv6946664, essv6955032, essv6902715, essv6816811, essv6972674, essv6871861, essv6764300, essv6864180, essv6769707, essv6847313, essv6679352, essv6933493, essv6845510, essv6753654, essv6736123, essv6666997
SamplesSSM027, SSM024, SSM011, SSM065, SSM087, SSM013, SSM050, SSM088, SSM057, SSM058, SSM021, SSM029, SSM026, SSM089, SSM031, SSM086, SSM033, SSM078, SSM010, SSM091, SSM004, SSM030, SSM063
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)esv2724262
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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