A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734869



Internal ID10318505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:98547918..98548552hg38UCSC Ensembl
Outerchr7:98177230..98177864hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911635, essv6826729, essv6790848, essv6694544, essv6969732, essv6786742
SamplesSSM028, SSM069, SSM015, SSM080, SSM037, SSM070
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)esv2734869
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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