A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721470



Internal ID10305106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:217752555..217752926hg38UCSC Ensembl
Outerchr2:218617278..218617649hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781363
SamplesSSM068
Known GenesDIRC3
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)esv2721470
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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