A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14434080



Internal ID3051343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31366900..31367493hg38UCSC Ensembl
Innerchr12:31366954..31367440hg38UCSC Ensembl
Outerchr12:31366847..31367547hg38UCSC Ensembl
chr12:31519834..31520427hg19UCSC Ensembl
Innerchr12:31519888..31520374hg19UCSC Ensembl
Outerchr12:31519781..31520481hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629043
Supporting Variants
SamplesHG02684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14434080
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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