A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13526729



Internal ID1649853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75389296..75396886hg38UCSC Ensembl
Innerchr9:75389296..75396886hg38UCSC Ensembl
Outerchr9:75388997..75397308hg38UCSC Ensembl
chr9:78004212..78011802hg19UCSC Ensembl
Innerchr9:78004212..78011802hg19UCSC Ensembl
Outerchr9:78003913..78012224hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg387591
hg197591
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620720
Supporting Variants
SamplesHG01518
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13526729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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