A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735064



Internal ID3285560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:117611931..117612068hg38UCSC Ensembl
Outerchr7:117251985..117252122hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6822757
SamplesSSM079
Known GenesCFTR
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)esv2735064
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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