A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629134



Internal ID7015956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33957063..34047748hg38UCSC Ensembl
chr12:34109998..34200683hg19UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3890686
hg1990686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14444354, essv14444349, essv14444353, essv14444351, essv14444350, essv14444352, essv14444348
SamplesNA07357, HG02069, HG03874, HG03851, HG03685, HG04061, HG03815
Known GenesALG10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629134
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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