A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14616123



Internal ID2760432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119610801..119611746hg38UCSC Ensembl
Innerchr12:119610813..119611734hg38UCSC Ensembl
Outerchr12:119610789..119611758hg38UCSC Ensembl
chr12:120048606..120049551hg19UCSC Ensembl
Innerchr12:120048618..120049539hg19UCSC Ensembl
Outerchr12:120048594..120049563hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38946
hg19946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630910
Supporting Variants
SamplesHG02429
Known GenesTMEM233
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14616123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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