A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724907



Internal ID9959209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11066571..11070245hg38UCSC Ensembl
Outerchr3:11108257..11111931hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg383675
hg193675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726350, essv6954428, essv6880792, essv6785563, essv6718641, essv6793837, essv6859813, essv6711087, essv6869101, essv6878028, essv6942402, essv6683268, essv6730103, essv6669805, essv6833057
SamplesSSM071, SSM046, SSM093, SSM042, SSM088, SSM023, SSM090, SSM047, SSM069, SSM094, SSM031, SSM044, SSM082, SSM034, SSM004
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)esv2724907
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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