A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847510



Internal ID9662647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157576849..157577163hg38UCSC Ensembl
Outerchr2:158433361..158433675hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721013
Supporting Variants
SamplesSSM011
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)essv6847510
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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