A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14615509



Internal ID4617325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118048289..118056870hg38UCSC Ensembl
Innerchr12:118048789..118056370hg38UCSC Ensembl
Outerchr12:118047289..118057870hg38UCSC Ensembl
chr12:118486094..118494675hg19UCSC Ensembl
Innerchr12:118486594..118494175hg19UCSC Ensembl
Outerchr12:118485094..118495675hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg388582
hg198582
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630882
Supporting Variants
SamplesNA21137
Known GenesWSB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14615509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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