A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728133



Internal ID10311769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:109875531..109876284hg38UCSC Ensembl
Outerchr4:110796687..110797440hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938555, essv6854552, essv6893094, essv6924296, essv6833390
SamplesSSM087, SSM003, SSM082, SSM022, SSM098
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)esv2728133
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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