A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847849



Internal ID9899859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11942273..11942443hg38UCSC Ensembl
Outerchr3:11983747..11983917hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724927, esv2724929, esv2724925
Supporting Variants
SamplesSSM086
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)essv6847849
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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