A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2n27



Internal ID20132260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6396412..6512115hg38UCSC Ensembl
chr1:6456472..6572175hg19UCSC Ensembl
chr1:6379059..6494762hg18UCSC Ensembl
chr1:6390738..6506441hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38115704
hg19115704
hg18115704
hg17115704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461839, nsv461950, nsv461728, nsv461616
SamplesHGDP00814, NINDS_98, 1780862021_A, NINDS_66
Known GenesESPN, HES2, MIR4252, PLEKHG5, TNFRSF25
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)dgv2n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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