A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv267e214



Internal ID22756161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33351479..33425922hg38UCSC Ensembl
chr12:33504414..33578857hg19UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3874444
hg1974444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3629111, esv3629109
SamplesNA07357, HG02721, HG03469
Known GenesSYT10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv267e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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