A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4173n100



Internal ID19014541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215383582..215732211hg38UCSC Ensembl
chr2:216248305..216596934hg19UCSC Ensembl
chr2:215956550..216305179hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38348630
hg19348630
hg18348630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003863, nsv1002530, nsv1003258
Samples
Known GenesFN1, LINC00607
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4173n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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