A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736888



Internal ID10320524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:37730342..37731329hg38UCSC Ensembl
Outerchr8:37587860..37588847hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800765, essv6782871, essv6787086, essv6881869
SamplesSSM009, SSM069, SSM094, SSM068
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)esv2736888
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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