A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700765



Internal ID9648256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69246000..69350039hg38UCSC Ensembl
Outerchr4:70111718..70215757hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38104040
hg19104040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727780, esv2727778
Supporting Variants
SamplesSSM006
Known GenesUGT2B28
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)essv6700765
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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