A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725128



Internal ID10308764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:34490476..34491005hg38UCSC Ensembl
Outerchr3:34531968..34532497hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707730, essv6864638, essv6825570, essv6683285, essv6669843, essv6973387, essv6675725, essv6878045, essv6854062, essv6718657, essv6859848, essv6789721, essv6686584, essv6962430, essv6955687
SamplesSSM027, SSM087, SSM093, SSM088, SSM041, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, SSM044, SSM080, SSM070, SSM034
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)esv2725128
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer