A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672228



Internal ID9938333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55606356..55612601hg38UCSC Ensembl
Outerchr6:55606319..55612651hg38UCSC Ensembl
Innerchr6:55471154..55477399hg19UCSC Ensembl
Outerchr6:55471117..55477449hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg386333
hg196333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1118e199
Supporting Variantsessv6130600
SamplesHG01051
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672228
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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