A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10447703



Internal ID893407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32373077..32388124hg38UCSC Ensembl
chr2:32598145..32613192hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3815048
hg1915048
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590248
Supporting Variants
SamplesHG00500
Known GenesBIRC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10447703
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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