A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848597



Internal ID9637647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230295963..230394825hg38UCSC Ensembl
Outerchr2:231160678..231259540hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3898863
hg1998863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721594
Supporting Variants
SamplesSSM001
Known GenesSP140, SP140L
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)essv6848597
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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