A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929520



Internal ID9693854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157576848..157577155hg38UCSC Ensembl
Outerchr2:158433360..158433667hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721013
Supporting Variants
SamplesSSM020
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)essv6929520
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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