A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676816



Internal ID9942921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29037741..29038740hg38UCSC Ensembl
chr8:28895258..28896257hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6354890, essv6187783
SamplesHG00421, HG00593
Known GenesHMBOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676816
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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