A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859816



Internal ID9913668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11902304..11902415hg38UCSC Ensembl
Outerchr3:11943778..11943889hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724919, esv2724922, esv2724921, esv2724892
Supporting Variants
SamplesSSM088
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)essv6859816
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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