A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743000



Internal ID10297116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157439382..157439900hg38UCSC Ensembl
Outerchr7:157232076..157232594hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1145e201
Supporting Variantsessv6935175
SamplesSSM021
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)esv2743000
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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