A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14351471



Internal ID4353287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8236300..8245707hg38UCSC Ensembl
Innerchr12:8236800..8245207hg38UCSC Ensembl
Outerchr12:8235300..8246707hg38UCSC Ensembl
chr12:8388896..8398303hg19UCSC Ensembl
Innerchr12:8389396..8397803hg19UCSC Ensembl
Outerchr12:8387896..8399303hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg389408
hg199408
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628460
Supporting Variants
SamplesHG00583
Known GenesFAM86FP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14351471
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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