A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv295e199



Internal ID20123597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59708547..59710289hg38UCSC Ensembl
chr12:60102328..60104070hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381743
hg191743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2677277, esv2656757
SamplesNA18861, NA18871, NA18523, NA19455, NA19651, NA19474, NA19908, NA19985, NA20336, NA19377, NA19189, NA19098, NA19707, HG01390, HG01108, NA18853
Known GenesSLC16A7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv295e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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