A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7147n54



Internal ID22775042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:163780900..163789057hg38UCSC Ensembl
chr2:164637410..164645567hg19UCSC Ensembl
chr2:164345656..164353813hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg388158
hg198158
hg188158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583530, nsv583531, nsv583532, nsv583529
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7147n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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