A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724952



Internal ID9959254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14154513..14155082hg38UCSC Ensembl
Outerchr3:14196013..14196582hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6889467, essv6962401, essv6955647, essv6759437, essv6886356, essv6869104, essv6736383, essv6742534, essv6878033, essv6847850, essv6973346, essv6859823, essv6753912
SamplesSSM027, SSM097, SSM093, SSM050, SSM088, SSM058, SSM090, SSM061, SSM029, SSM096, SSM026, SSM086, SSM053
Known GenesXPC
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)esv2724952
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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