A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630853



Internal ID7017667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116582863..116591706hg38UCSC Ensembl
Innerchr12:116582910..116591659hg38UCSC Ensembl
Outerchr12:116582816..116591753hg38UCSC Ensembl
chr12:117020668..117029511hg19UCSC Ensembl
Innerchr12:117020715..117029464hg19UCSC Ensembl
Outerchr12:117020621..117029558hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg388844
hg198844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14611010
SamplesNA19235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630853
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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