A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677808



Internal ID9943913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:15595669..15600010hg38UCSC Ensembl
chr9:15595667..15600008hg19UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg384342
hg194342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6412264, essv5884429
SamplesHG01148, NA19401
Known GenesCCDC171
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677808
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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