A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6770272



Internal ID10176727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7676510..7677231hg38UCSC Ensembl
Outerchr4:7678237..7678958hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727063
Supporting Variants
SamplesSSM065
Known GenesSORCS2
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)essv6770272
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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