A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629617



Internal ID6669756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57912245..57925299hg38UCSC Ensembl
Innerchr12:57912314..57925230hg38UCSC Ensembl
Outerchr12:57912176..57925368hg38UCSC Ensembl
chr12:58306028..58319082hg19UCSC Ensembl
Innerchr12:58306097..58319013hg19UCSC Ensembl
Outerchr12:58305959..58319151hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3813055
hg1913055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14489056
SamplesHG01365
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629617
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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