A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv112n27



Internal ID18991122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:74487347..74614146hg38UCSC Ensembl
chr10:76247105..76373904hg19UCSC Ensembl
chr10:75917111..76043910hg18UCSC Ensembl
chr10:75917111..76043910hg17UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38126800
hg19126800
hg18126800
hg17126800
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467378, nsv467379
SamplesNINDS_147, NINDS_145
Known GenesADK
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)dgv112n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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