A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4214n100



Internal ID22790301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:242034400..242147293hg38UCSC Ensembl
chr2:242976551..243089444hg19UCSC Ensembl
chr2:242625224..242738117hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38112894
hg19112894
hg18112894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014546, nsv1014410
Samples
Known GenesLOC728323
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4214n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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