A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817507



Internal ID9874922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42903128..42903810hg38UCSC Ensembl
Outerchr4:42905145..42905827hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727494
Supporting Variants
SamplesSSM078
Known GenesGRXCR1
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)essv6817507
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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