A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14606267



Internal ID4608083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112909354..112910205hg38UCSC Ensembl
Innerchr12:112909372..112910187hg38UCSC Ensembl
Outerchr12:112909336..112910223hg38UCSC Ensembl
chr12:113347159..113348010hg19UCSC Ensembl
Innerchr12:113347177..113347992hg19UCSC Ensembl
Outerchr12:113347141..113348028hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630790
Supporting Variants
SamplesHG01709
Known GenesOAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14606267
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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