A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677477



Internal ID9596896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96777235..96779883hg38UCSC Ensembl
Outerchr2:96777078..96780036hg38UCSC Ensembl
Innerchr2:97442972..97445620hg19UCSC Ensembl
Outerchr2:97442815..97445773hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg382959
hg192959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5954271
SamplesNA19332
Known GenesCNNM4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677477
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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