A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628460



Internal ID6668603
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14351473, essv14351472, essv14351471, essv14351474
SamplesHG00654, NA18611, HG03830, HG00583
Known GenesFAM86FP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628460
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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