A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14591174



Internal ID4592990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102423276..102436324hg38UCSC Ensembl
Innerchr12:102423278..102436323hg38UCSC Ensembl
Outerchr12:102423275..102436326hg38UCSC Ensembl
chr12:102817054..102830102hg19UCSC Ensembl
Innerchr12:102817056..102830101hg19UCSC Ensembl
Outerchr12:102817053..102830104hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3813049
hg1913049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630590
Supporting Variants
SamplesHG02494
Known GenesIGF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14591174
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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