A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736911



Internal ID10320547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40118537..40118638hg38UCSC Ensembl
Outerchr8:39976056..39976157hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672082, essv6708967, essv6856184, essv6850155, essv6958119
SamplesSSM087, SSM041, SSM026, SSM031, SSM086
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)esv2736911
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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