A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv393n27



Internal ID20132651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6895855..7112582hg38UCSC Ensembl
chr19:6895866..7112593hg19UCSC Ensembl
chr19:6846866..7063593hg18UCSC Ensembl
chr19:6846866..7063593hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38216728
hg19216728
hg18216728
hg17216728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458337, nsv458342, nsv458343, nsv458338
SamplesHGDP00160, NINDS_231, NINDS_236, 1780854184_A
Known GenesEMR1, EMR4P, FLJ25758, INSR, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv393n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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