A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13512311



Internal ID6402076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70186853..70205598hg38UCSC Ensembl
Innerchr9:70186853..70205598hg38UCSC Ensembl
Outerchr9:70186353..70206098hg38UCSC Ensembl
chr9:72801769..72820514hg19UCSC Ensembl
Innerchr9:72801769..72820514hg19UCSC Ensembl
Outerchr9:72801269..72821014hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3818746
hg1918746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620573
Supporting Variants
SamplesNA20351
Known GenesMAMDC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13512311
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