A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847751



Internal ID10246457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219067013..219067322hg38UCSC Ensembl
Outerchr2:219931735..219932044hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721480, esv2721479
Supporting Variants
SamplesSSM086
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)essv6847751
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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