A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14579261



Internal ID3749280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96407017..96414889hg38UCSC Ensembl
Innerchr12:96407033..96414874hg38UCSC Ensembl
Outerchr12:96407002..96414905hg38UCSC Ensembl
chr12:96800795..96808667hg19UCSC Ensembl
Innerchr12:96800811..96808652hg19UCSC Ensembl
Outerchr12:96800780..96808683hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387873
hg197873
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630451
Supporting Variants
SamplesHG03380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14579261
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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