A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678899



Internal ID9598318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14568488..14568929hg38UCSC Ensembl
Outerchr19:14568451..14568979hg38UCSC Ensembl
Innerchr19:14679300..14679741hg19UCSC Ensembl
Outerchr19:14679263..14679791hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5688588, essv6197161, essv5922458
SamplesHG00449, HG00684, NA18555
Known GenesNDUFB7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678899
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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