A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6860075



Internal ID10260121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3509285..3509439hg38UCSC Ensembl
Outerchr4:3511012..3511166hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726901, esv2726900, esv2726902
Supporting Variants
SamplesSSM088
Known GenesLRPAP1
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)essv6860075
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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