A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14570251



Internal ID5650197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92680490..92686566hg38UCSC Ensembl
Innerchr12:92680490..92686566hg38UCSC Ensembl
Outerchr12:92680469..92686583hg38UCSC Ensembl
chr12:93074266..93080342hg19UCSC Ensembl
Innerchr12:93074266..93080342hg19UCSC Ensembl
Outerchr12:93074245..93080359hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386077
hg196077
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630386
Supporting Variants
SamplesNA19066
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14570251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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