A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628806



Internal ID6668948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21343905..21380714hg38UCSC Ensembl
Innerchr12:21343905..21380714hg38UCSC Ensembl
Outerchr12:21343405..21381214hg38UCSC Ensembl
chr12:21496839..21533648hg19UCSC Ensembl
Innerchr12:21496839..21533648hg19UCSC Ensembl
Outerchr12:21496339..21534148hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3836810
hg1936810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14406177
SamplesHG03856
Known GenesIAPP, SLCO1A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628806
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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