A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628277



Internal ID6668420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1342554..1352934hg38UCSC Ensembl
Innerchr12:1342554..1352934hg38UCSC Ensembl
Outerchr12:1342054..1353434hg38UCSC Ensembl
chr12:1451720..1462100hg19UCSC Ensembl
Innerchr12:1451720..1462100hg19UCSC Ensembl
Outerchr12:1451220..1462600hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810381
hg1910381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14333789
SamplesHG01393
Known GenesERC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628277
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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