A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14378611



Internal ID2251038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10965538..10977584hg38UCSC Ensembl
Innerchr12:10965567..10977555hg38UCSC Ensembl
Outerchr12:10965509..10977613hg38UCSC Ensembl
chr12:11118137..11130183hg19UCSC Ensembl
Innerchr12:11118166..11130154hg19UCSC Ensembl
Outerchr12:11118108..11130212hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3812047
hg1912047
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628552
Supporting Variants
SamplesHG02016
Known GenesPRH1-PRR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14378611
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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