A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854481



Internal ID9905830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69174446..69339513hg38UCSC Ensembl
Outerchr4:70040164..70205231hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38165068
hg19165068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727780, esv2727778
Supporting Variants
SamplesSSM087
Known GenesUGT2B11, UGT2B28
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)essv6854481
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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