A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658278



Internal ID2891365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16398240..16398368hg38UCSC Ensembl
Outerchr7:16398203..16398418hg38UCSC Ensembl
Innerchr7:16437865..16437993hg19UCSC Ensembl
Outerchr7:16437828..16438043hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5854124, essv5928091
SamplesNA06986, NA11992
Known GenesISPD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658278
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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