A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727765



Internal ID9962077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:67487228..67488269hg38UCSC Ensembl
Outerchr4:68352946..68353987hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730418, essv6794172
SamplesSSM071, SSM047
Known GenesCENPC
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)esv2727765
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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