A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6181406



Internal ID9769148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7798646..7905603hg38UCSC Ensembl
chr12:7951242..8058199hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38106958
hg19106958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656717
Supporting Variants
SamplesNA19726
Known GenesSLC2A14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6181406
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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