A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620574



Internal ID7007444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70206149..70215811hg38UCSC Ensembl
Innerchr9:70206149..70215811hg38UCSC Ensembl
Outerchr9:70205649..70216311hg38UCSC Ensembl
chr9:72821065..72830727hg19UCSC Ensembl
Innerchr9:72821065..72830727hg19UCSC Ensembl
Outerchr9:72820565..72831227hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg389663
hg199663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13512312, essv13512314, essv13512313
SamplesNA19307, NA20342, NA19316
Known GenesMAMDC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620574
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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