A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6773911



Internal ID10180003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241668924..241669091hg38UCSC Ensembl
Outerchr2:242608339..242608506hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722015, esv2722014
Supporting Variants
SamplesSSM066
Known GenesATG4B
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)essv6773911
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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