A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14373900



Internal ID3152158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10093357..10094624hg38UCSC Ensembl
Innerchr12:10093357..10094624hg38UCSC Ensembl
Outerchr12:10093098..10094926hg38UCSC Ensembl
chr12:10245956..10247223hg19UCSC Ensembl
Innerchr12:10245956..10247223hg19UCSC Ensembl
Outerchr12:10245697..10247525hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628525
Supporting Variants
SamplesHG02775
Known GenesCLEC1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14373900
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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