A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869027



Internal ID9918922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157576852..157577143hg38UCSC Ensembl
Outerchr2:158433364..158433655hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721013
Supporting Variants
SamplesSSM090
Known GenesACVR1C
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)essv6869027
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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