A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv94n27



Internal ID22766823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:54476971..54513792hg38UCSC Ensembl
chr10:56236731..56273552hg19UCSC Ensembl
chr10:55906737..55943558hg18UCSC Ensembl
chr10:55906737..55943558hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3836822
hg1936822
hg1836822
hg1736822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467220, nsv467224
SamplesHGDP01263, 1782681093_A
Known GenesPCDH15
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)dgv94n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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