A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677948



Internal ID9944053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7412179..7413555hg38UCSC Ensembl
chr7:7451810..7453186hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381377
hg191377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5498008, essv5728270, essv5751058
SamplesHG00650, NA18489, HG00531
Known GenesCOL28A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677948
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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