A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913974



Internal ID9638172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14890618..14916054hg38UCSC Ensembl
Outerchr20:14871264..14896700hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3825437
hg1925437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722213, esv2722214
Supporting Variants
SamplesSSM002
Known GenesMACROD2, MACROD2-AS1
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)essv6913974
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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