A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737360



Internal ID10320996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100703329..100704931hg38UCSC Ensembl
Outerchr8:101715557..101717159hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381603
hg191603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803070, essv6970125, essv6763018, essv6733976, essv6757860, essv6766809, essv6743609, essv6834384, essv6952612, essv6681045, essv6912003, essv6712478, essv6893798, essv6737462, essv6685487, essv6787129, essv6944235, essv6740560, essv6814926, essv6927413, essv6964810, essv6887545, essv6749246
SamplesSSM059, SSM008, SSM027, SSM073, SSM050, SSM042, SSM023, SSM028, SSM069, SSM096, SSM062, SSM019, SSM001, SSM033, SSM082, SSM007, SSM015, SSM053, SSM077, SSM025, SSM052, SSM056, SSM012
Known GenesPABPC1
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)esv2737360
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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