A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887301



Internal ID9935545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141414091..141414379hg38UCSC Ensembl
Outerchr7:141113891..141114179hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735246
Supporting Variants
SamplesSSM096
Known GenesTMEM178B
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)essv6887301
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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