A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656567



Internal ID9922672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214831237..214837093hg38UCSC Ensembl
Outerchr1:214831200..214837143hg38UCSC Ensembl
Innerchr1:215004580..215010436hg19UCSC Ensembl
Outerchr1:215004543..215010486hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385944
hg195944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5859134
SamplesNA18546
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656567
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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