A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv177n100



Internal ID20151793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70948613..71006192hg38UCSC Ensembl
chr1:71414296..71471875hg19UCSC Ensembl
chr1:71186884..71244463hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3857580
hg1957580
hg1857580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003555, nsv1006266, nsv1007153, nsv1002842, nsv997350
Samples
Known GenesPTGER3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv177n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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