A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728867



Internal ID10312503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183464210..183464503hg38UCSC Ensembl
Outerchr4:184385363..184385656hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918393, essv6974131, essv6704693, essv6947459, essv6817761, essv6751323, essv6848556, essv6861264, essv6957840, essv6926502, essv6875427, essv6719066
SamplesSSM024, SSM002, SSM057, SSM092, SSM029, SSM017, SSM019, SSM044, SSM086, SSM040, SSM078, SSM004
Known Genes
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)esv2728867
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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