A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv841n27



Internal ID20133099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142625892..142809818hg38UCSC Ensembl
chr7:142333406..142507502hg19UCSC Ensembl
chr7:142014398..142217629hg18UCSC Ensembl
chr7:141821113..142024344hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38183927
hg19174097
hg18203232
hg17203232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465168, nsv465171, nsv465169, nsv465174, nsv465167
SamplesHGDP01311, HGDP01287, HGDP01205, HGDP00542, HGDP00972
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
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)dgv841n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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