A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14570245



Internal ID6900265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92620151..92621968hg38UCSC Ensembl
Innerchr12:92620201..92621918hg38UCSC Ensembl
Outerchr12:92620101..92622018hg38UCSC Ensembl
chr12:93013927..93015744hg19UCSC Ensembl
Innerchr12:93013977..93015694hg19UCSC Ensembl
Outerchr12:93013877..93015794hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381818
hg191818
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630385
Supporting Variants
SamplesNA21109
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14570245
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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