A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6822035



Internal ID9876627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:112548834..112549118hg38UCSC Ensembl
Outerchr4:113469990..113470274hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728154
Supporting Variants
SamplesSSM079
Known GenesC4orf21
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)essv6822035
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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