A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683222



Internal ID10100725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:216109220..216109350hg38UCSC Ensembl
Outerchr2:216973943..216974073hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721455
Supporting Variants
SamplesSSM034
Known GenesXRCC5
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)essv6683222
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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