A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734777



Internal ID9969107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:87840405..87848775hg38UCSC Ensembl
Outerchr7:87469720..87478090hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg388371
hg198371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6680688
SamplesSSM033
Known GenesSLC25A40
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)esv2734777
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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