A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14374096



Internal ID2778416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10240355..10258144hg38UCSC Ensembl
Innerchr12:10240355..10258144hg38UCSC Ensembl
Outerchr12:10240176..10258327hg38UCSC Ensembl
chr12:10392954..10410743hg19UCSC Ensembl
Innerchr12:10392954..10410743hg19UCSC Ensembl
Outerchr12:10392775..10410926hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3817790
hg1917790
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628532
Supporting Variants
SamplesHG02450
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14374096
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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