A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735053



Internal ID10318689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:114888811..114888989hg38UCSC Ensembl
Outerchr7:114528866..114529044hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782537, essv6694563, essv6712161, essv6826747
SamplesSSM042, SSM068, SSM080, SSM037
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)esv2735053
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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