A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv468n27



Internal ID22767197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:83000131..83123080hg38UCSC Ensembl
chr2:83227255..83350204hg19UCSC Ensembl
chr2:83080766..83203715hg18UCSC Ensembl
chr2:83138913..83261862hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38122950
hg19122950
hg18122950
hg17122950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458507, nsv458529, nsv458496, nsv458485, nsv458540, nsv458518
Samples1780862042_A, 1780854261_A, 1782681317_A, 1780862176_A, NINDS_44, 1780862432_A
Known Genes
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)dgv468n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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