A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722003



Internal ID10305639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241482906..241483000hg38UCSC Ensembl
Outerchr2:242422321..242422415hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906635
SamplesSSM014
Known GenesFARP2
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)esv2722003
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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