A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14615564



Internal ID5529735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118796546..118852767hg38UCSC Ensembl
Innerchr12:118796574..118852740hg38UCSC Ensembl
Outerchr12:118796519..118852795hg38UCSC Ensembl
chr12:119234351..119290572hg19UCSC Ensembl
Innerchr12:119234379..119290545hg19UCSC Ensembl
Outerchr12:119234324..119290600hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3856222
hg1956222
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630894
Supporting Variants
SamplesNA18997
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14615564
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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