A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14348449



Internal ID3344439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7563679..7568704hg38UCSC Ensembl
Innerchr12:7563697..7568686hg38UCSC Ensembl
Outerchr12:7563661..7568722hg38UCSC Ensembl
chr12:7716275..7721300hg19UCSC Ensembl
Innerchr12:7716293..7721282hg19UCSC Ensembl
Outerchr12:7716257..7721318hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385026
hg195026
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628429
Supporting Variants
SamplesHG02982
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14348449
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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