A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864972



Internal ID9915272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55445095..55445238hg38UCSC Ensembl
Outerchr4:56311262..56311405hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727636, esv2727634, esv2727635, esv2727633
Supporting Variants
SamplesSSM089
Known GenesCLOCK
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)essv6864972
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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