A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6713823



Internal ID9779528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41277673..41278878hg38UCSC Ensembl
Outerchr20:39906313..39907518hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381206
hg191206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722418
Supporting Variants
SamplesSSM042
Known GenesZHX3
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)essv6713823
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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