A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433076



Internal ID434892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24880563..24882165hg38UCSC Ensembl
Innerchr2:24880563..24882165hg38UCSC Ensembl
Outerchr2:24880281..24882420hg38UCSC Ensembl
chr2:25103432..25105034hg19UCSC Ensembl
Innerchr2:25103432..25105034hg19UCSC Ensembl
Outerchr2:25103150..25105289hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381603
hg191603
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590080
Supporting Variants
SamplesNA19461
Known GenesADCY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433076
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer