A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628327



Internal ID6668470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2895715..2898045hg38UCSC Ensembl
Innerchr12:2895732..2898029hg38UCSC Ensembl
Outerchr12:2895699..2898062hg38UCSC Ensembl
chr12:3004881..3007211hg19UCSC Ensembl
Innerchr12:3004898..3007195hg19UCSC Ensembl
Outerchr12:3004865..3007228hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382331
hg192331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14338160
SamplesHG03693
Known GenesTULP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628327
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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