A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4157n100



Internal ID22790244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207475081..207495060hg38UCSC Ensembl
chr2:208339805..208359784hg19UCSC Ensembl
chr2:208048050..208068029hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3819980
hg1919980
hg1819980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004040, nsv1006855, nsv1013878, nsv1000868, nsv1011441, nsv998765, nsv1001197, nsv1008613
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4157n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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