A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660596



Internal ID9926701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203034293..203039799hg38UCSC Ensembl
Outerchr2:203033922..203040169hg38UCSC Ensembl
Innerchr2:203899016..203904522hg19UCSC Ensembl
Outerchr2:203898645..203904892hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg386248
hg196248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv755e199
Supporting Variantsessv5716959, essv5668597, essv5631951
SamplesHG01519, HG01515, HG01516
Known GenesNBEAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660596
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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