A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734897



Internal ID9969227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100958890..100958966hg38UCSC Ensembl
Outerchr7:100551019..100551095hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865978
SamplesSSM089
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)esv2734897
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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