A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725797



Internal ID10309433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:115360681..115360881hg38UCSC Ensembl
Outerchr3:115079528..115079728hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700300, essv6686647, essv6669958, essv6955811, essv6774001, essv6718716, essv6968605, essv6802059, essv6833136, essv6903084, essv6962528, essv6973521, essv6825651, essv6848016, essv6813693
SamplesSSM027, SSM039, SSM013, SSM073, SSM028, SSM029, SSM026, SSM035, SSM031, SSM044, SSM086, SSM066, SSM082, SSM080, SSM077
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)esv2725797
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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