A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6787810



Internal ID10003593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126971278..126972008hg38UCSC Ensembl
Outerchr2:127728854..127729584hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720725
Supporting Variants
SamplesSSM009
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)essv6787810
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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