A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6686656



Internal ID10103461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130044538..130087903hg38UCSC Ensembl
Outerchr3:129763381..129806746hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3843366
hg1943366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725910, esv2725909
Supporting Variants
SamplesSSM035
Known GenesALG1L2
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)essv6686656
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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