A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13516720



Internal ID6023486
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620644
Supporting Variants
SamplesNA19434
Known GenesTMC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13516720
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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