A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6914383



Internal ID10025520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238276013..238276167hg38UCSC Ensembl
Outerchr2:239184654..239184808hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721756, esv2721757
Supporting Variants
SamplesSSM016
Known GenesPER2
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)essv6914383
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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