A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724953



Internal ID9959255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14154764..14154948hg38UCSC Ensembl
Outerchr3:14196264..14196448hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6889467, essv6962401, essv6955647, essv6886356, essv6869104, essv6878033, essv6847850, essv6859823
SamplesSSM027, SSM097, SSM093, SSM088, SSM090, SSM096, SSM026, SSM086
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)esv2724953
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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