A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6686752



Internal ID10103548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7676923..7677115hg38UCSC Ensembl
Outerchr4:7678650..7678842hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727066, esv2727063
Supporting Variants
SamplesSSM035
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)essv6686752
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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