A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14343688



Internal ID1124832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4759845..4765108hg38UCSC Ensembl
chr12:4869011..4874274hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385264
hg195264
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628370
Supporting Variants
SamplesHG00766
Known GenesGALNT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14343688
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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