A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734462



Internal ID9968789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56367612..56368203hg38UCSC Ensembl
Outerchr7:56435305..56435896hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975259, essv6715782
SamplesSSM029, SSM043
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)esv2734462
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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