A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10611100



Internal ID612916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108610887..108621420hg38UCSC Ensembl
Innerchr2:108610887..108621420hg38UCSC Ensembl
Outerchr2:108610663..108621680hg38UCSC Ensembl
chr2:109227343..109237876hg19UCSC Ensembl
Innerchr2:109227343..109237876hg19UCSC Ensembl
Outerchr2:109227119..109238136hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3810534
hg1910534
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591929
Supporting Variants
SamplesHG03730
Known GenesLIMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10611100
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