A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630882



Internal ID6671015
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14615509
SamplesNA21137
Known GenesWSB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630882
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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