A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748830



Internal ID10329800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58980631..58981722hg38UCSC Ensembl
Outerchr1:59446303..59447394hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381092
hg191092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736003, essv6961625, essv6669009, essv6804042, essv6859234, essv6817020, essv6933348, essv6753533, essv6821223, essv6759086, essv6742175, essv6836225, essv6750637, essv6797493, essv6844166, essv6816626, essv6972428, essv6756582, essv6744974, essv6874735, essv6784965, essv6780922, essv6843926, essv6883284, essv6733516
SamplesSSM059, SSM083, SSM027, SSM011, SSM079, SSM009, SSM050, SSM088, SSM002, SSM057, SSM058, SSM092, SSM021, SSM061, SSM029, SSM031, SSM085, SSM068, SSM072, SSM078, SSM053, SSM010, SSM055, SSM095, SSM049
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)esv2748830
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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