A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630356



Internal ID7017175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91321660..91327208hg38UCSC Ensembl
Innerchr12:91321660..91327208hg38UCSC Ensembl
Outerchr12:91321160..91327708hg38UCSC Ensembl
chr12:91715437..91720985hg19UCSC Ensembl
Innerchr12:91715437..91720985hg19UCSC Ensembl
Outerchr12:91714937..91721485hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg385549
hg195549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14567991, essv14567990
SamplesNA19355, HG02165
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630356
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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