A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736833



Internal ID10320469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30746355..30748192hg38UCSC Ensembl
Outerchr8:30603872..30605709hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381838
hg191838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904507, essv6749206, essv6762989, essv6684527, essv6800710, essv6684528, essv6731482, essv6856171, essv6911950, essv6845453, essv6778824, essv6966284, essv6931136, essv6800721, essv6727720, essv6672072, essv6752083, essv6716149, essv6765395, essv6677167, essv6931135, essv6740506, essv6677165, essv6795336, essv6672073, essv6691045, essv6866328
SamplesSSM036, SSM071, SSM046, SSM087, SSM009, SSM002, SSM057, SSM047, SSM062, SSM089, SSM032, SSM031, SSM067, SSM085, SSM020, SSM015, SSM034, SSM004, SSM043, SSM052, SSM056, SSM063
Known GenesUBXN8
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)esv2736833
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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