A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14344329



Internal ID2544616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5126087..5131051hg38UCSC Ensembl
Innerchr12:5126110..5131028hg38UCSC Ensembl
Outerchr12:5126064..5131074hg38UCSC Ensembl
chr12:5235253..5240217hg19UCSC Ensembl
Innerchr12:5235276..5240194hg19UCSC Ensembl
Outerchr12:5235230..5240240hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg384965
hg194965
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628380
Supporting Variants
SamplesHG02259
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14344329
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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