A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946901



Internal ID9710410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157576846..157577145hg38UCSC Ensembl
Outerchr2:158433358..158433657hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721013
Supporting Variants
SamplesSSM024
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)essv6946901
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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