A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630214



Internal ID7017033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84282556..84360505hg38UCSC Ensembl
Innerchr12:84282556..84360505hg38UCSC Ensembl
Outerchr12:84282056..84361005hg38UCSC Ensembl
chr12:84676335..84754284hg19UCSC Ensembl
Innerchr12:84676335..84754284hg19UCSC Ensembl
Outerchr12:84675835..84754784hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3877950
hg1977950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14554307
SamplesNA19475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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