A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721563



Internal ID9955859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227648287..227699345hg38UCSC Ensembl
Outerchr2:228513003..228564061hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3851059
hg1951059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829427, essv6698553, essv6810669, essv6804772
SamplesSSM074, SSM006, SSM081, SSM076
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)esv2721563
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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