A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629411



Internal ID7016233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47037914..47040678hg38UCSC Ensembl
Innerchr12:47037914..47040678hg38UCSC Ensembl
Outerchr12:47037847..47040769hg38UCSC Ensembl
chr12:47431697..47434461hg19UCSC Ensembl
Innerchr12:47431697..47434461hg19UCSC Ensembl
Outerchr12:47431630..47434552hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382765
hg192765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14474825
SamplesHG01377
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629411
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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