A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678811



Internal ID9598230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:21675662..21683213hg38UCSC Ensembl
Outerchr6:21675625..21683263hg38UCSC Ensembl
Innerchr6:21675893..21683444hg19UCSC Ensembl
Outerchr6:21675856..21683494hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg387639
hg197639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6462290
SamplesHG00653
Known GenesCASC15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678811
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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