A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14552065



Internal ID5948113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83386895..83391677hg38UCSC Ensembl
Innerchr12:83386899..83391673hg38UCSC Ensembl
Outerchr12:83386891..83391681hg38UCSC Ensembl
chr12:83780674..83785456hg19UCSC Ensembl
Innerchr12:83780678..83785452hg19UCSC Ensembl
Outerchr12:83780670..83785460hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg384783
hg194783
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630179
Supporting Variants
SamplesNA19360
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14552065
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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