A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714693



Internal ID9780019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230295558..230394828hg38UCSC Ensembl
Outerchr2:231160273..231259543hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3899271
hg1999271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721594
Supporting Variants
SamplesSSM043
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)essv6714693
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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