A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv810n27



Internal ID20133068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37102969..37105403hg38UCSC Ensembl
chr7:37142574..37145008hg19UCSC Ensembl
chr7:37109099..37111533hg18UCSC Ensembl
chr7:36915814..36918248hg17UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg382435
hg192435
hg182435
hg172435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv464430, nsv464429
SamplesHGDP00541, HGDP00546
Known GenesELMO1
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)dgv810n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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