A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv392n27



Internal ID22767121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6895855..7000390hg38UCSC Ensembl
chr19:6895866..7000401hg19UCSC Ensembl
chr19:6846866..6951401hg18UCSC Ensembl
chr19:6846866..6951401hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38104536
hg19104536
hg18104536
hg17104536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458333, nsv458344
Samples1782681287_A, NINDS_66
Known GenesEMR1, EMR4P
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)dgv392n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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