A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14610982



Internal ID4612798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116104160..116110293hg38UCSC Ensembl
Innerchr12:116104187..116110267hg38UCSC Ensembl
Outerchr12:116104134..116110320hg38UCSC Ensembl
chr12:116541965..116548098hg19UCSC Ensembl
Innerchr12:116541992..116548072hg19UCSC Ensembl
Outerchr12:116541939..116548125hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg386134
hg196134
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630845
Supporting Variants
SamplesHG02804
Known GenesMED13L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14610982
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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