A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621582



Internal ID2981254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123537487..123538810hg38UCSC Ensembl
Innerchr12:123537550..123538748hg38UCSC Ensembl
Outerchr12:123537425..123538873hg38UCSC Ensembl
chr12:124022034..124023357hg19UCSC Ensembl
Innerchr12:124022097..124023295hg19UCSC Ensembl
Outerchr12:124021972..124023420hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381324
hg191324
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630990
Supporting Variants
SamplesHG02629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621582
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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