A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726880



Internal ID10310516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3388011..3388404hg38UCSC Ensembl
Outerchr4:3389738..3390131hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794063, essv6785788, essv6910760, essv6947232, essv6922510, essv6854339, essv6929849, essv6781636, essv6821869, essv6825764
SamplesSSM071, SSM024, SSM079, SSM087, SSM018, SSM069, SSM068, SSM020, SSM015, SSM080
Known GenesRGS12
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)esv2726880
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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