A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4165n100



Internal ID22790252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211485916..211555140hg38UCSC Ensembl
chr2:212350641..212419865hg19UCSC Ensembl
chr2:212058886..212128110hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3869225
hg1969225
hg1869225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998427, nsv999487, nsv1010811, nsv1013164, nsv1006545
Samples
Known GenesERBB4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4165n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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