A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736712



Internal ID9971044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19233417..19234419hg38UCSC Ensembl
Outerchr8:19090927..19091929hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381003
hg191003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782849, essv6683031, essv6707376, essv6931123, essv6766176, essv6672050, essv6795320, essv6723863, essv6731474, essv6904440, essv6694842, essv6682154, essv6818904, essv6975910, essv6705627, essv6911940, essv6893232, essv6927365, essv6830364, essv6687776
SamplesSSM008, SSM071, SSM045, SSM002, SSM047, SSM029, SSM019, SSM035, SSM031, SSM001, SSM006, SSM068, SSM040, SSM020, SSM015, SSM078, SSM005, SSM037, SSM010, SSM012
Known GenesLOC100128993
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)esv2736712
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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