A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6762332



Internal ID9824112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68516976..68627876hg38UCSC Ensembl
Outerchr4:69382694..69493594hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38110901
hg19110901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727770
Supporting Variants
SamplesSSM062
Known GenesUGT2B17
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)essv6762332
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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