A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864612



Internal ID9914947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:12155019..12155089hg38UCSC Ensembl
Outerchr3:12196519..12196589hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724932, esv2724931, esv2724927, esv2724925
Supporting Variants
SamplesSSM089
Known GenesSYN2, TIMP4
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)essv6864612
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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