A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620644



Internal ID7007514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72641308..72646575hg38UCSC Ensembl
Innerchr9:72641345..72646538hg38UCSC Ensembl
Outerchr9:72641271..72646612hg38UCSC Ensembl
chr9:75256224..75261491hg19UCSC Ensembl
Innerchr9:75256261..75261454hg19UCSC Ensembl
Outerchr9:75256187..75261528hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg385268
hg195268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13516719, essv13516720, essv13516718
SamplesNA19075, HG02953, NA19434
Known GenesTMC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620644
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