A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14486544



Internal ID4233433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56061297..56067246hg38UCSC Ensembl
Innerchr12:56061319..56067224hg38UCSC Ensembl
Outerchr12:56061275..56067268hg38UCSC Ensembl
chr12:56455081..56461030hg19UCSC Ensembl
Innerchr12:56455103..56461008hg19UCSC Ensembl
Outerchr12:56455059..56461052hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg385950
hg195950
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629592
Supporting Variants
SamplesHG03808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14486544
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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