A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14464617



Internal ID3455069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43736529..43742069hg38UCSC Ensembl
Innerchr12:43736529..43742069hg38UCSC Ensembl
Outerchr12:43736275..43742448hg38UCSC Ensembl
chr12:44130332..44135872hg19UCSC Ensembl
Innerchr12:44130332..44135872hg19UCSC Ensembl
Outerchr12:44130078..44136251hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385541
hg195541
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629351
Supporting Variants
SamplesHG03079
Known GenesPUS7L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14464617
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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