A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698553



Internal ID9650151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227648574..227699336hg38UCSC Ensembl
Outerchr2:228513290..228564052hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3850763
hg1950763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721563
Supporting Variants
SamplesSSM006
Known GenesSLC19A3
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)essv6698553
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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