A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955619



Internal ID10064429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241668957..241669049hg38UCSC Ensembl
Outerchr2:242608372..242608464hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722015, esv2722014
Supporting Variants
SamplesSSM026
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)essv6955619
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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