A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859762



Internal ID10260403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231426153..231426247hg38UCSC Ensembl
Outerchr2:232290864..232290958hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721614, esv2721613
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)essv6859762
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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