A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629022



Internal ID6669162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30738674..30739469hg38UCSC Ensembl
Innerchr12:30738724..30739419hg38UCSC Ensembl
Outerchr12:30738566..30739577hg38UCSC Ensembl
chr12:30891608..30892403hg19UCSC Ensembl
Innerchr12:30891658..30892353hg19UCSC Ensembl
Outerchr12:30891500..30892511hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14431049
SamplesHG03054
Known GenesCAPRIN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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