A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726871



Internal ID10310507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3309021..3309232hg38UCSC Ensembl
Outerchr4:3310748..3310959hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947230, essv6973710, essv6675916, essv6922918, essv6689904, essv6848180, essv6962724, essv6789897, essv6955995, essv6942658, essv6864850, essv6906859
SamplesSSM036, SSM027, SSM024, SSM023, SSM029, SSM026, SSM089, SSM032, SSM003, SSM014, SSM086, SSM070
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)esv2726871
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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