A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10694993



Internal ID696809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143210155..143210887hg38UCSC Ensembl
Innerchr2:143210182..143210860hg38UCSC Ensembl
Outerchr2:143210128..143210914hg38UCSC Ensembl
chr2:143967724..143968456hg19UCSC Ensembl
Innerchr2:143967751..143968429hg19UCSC Ensembl
Outerchr2:143967697..143968483hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592750
Supporting Variants
SamplesHG01519
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10694993
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