A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3746n100



Internal ID22789833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31201722..31247979hg38UCSC Ensembl
chr2:31424588..31470845hg19UCSC Ensembl
chr2:31278092..31324349hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3846258
hg1946258
hg1846258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000416, nsv1001299, nsv1009712
Samples
Known GenesCAPN14, EHD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3746n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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