A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677811



Internal ID9943916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:177539900..177590939hg38UCSC Ensembl
Outerchr1:177539863..177590989hg38UCSC Ensembl
Innerchr1:177509035..177560074hg19UCSC Ensembl
Outerchr1:177508998..177560124hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3851127
hg1951127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5915470, essv6316372
SamplesNA19079, NA19064
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677811
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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