A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10403799



Internal ID6860857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6747557..6757391hg38UCSC Ensembl
chr2:6887688..6897522hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg389835
hg199835
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589731
Supporting Variants
SamplesNA21091
Known GenesLINC00487
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10403799
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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