A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13513340



Internal ID4529327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:71103001..71151797hg38UCSC Ensembl
Innerchr9:71103001..71151797hg38UCSC Ensembl
Outerchr9:71102501..71152297hg38UCSC Ensembl
chr9:73717917..73766713hg19UCSC Ensembl
Innerchr9:73717917..73766713hg19UCSC Ensembl
Outerchr9:73717417..73767213hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3848797
hg1948797
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620594
Supporting Variants
SamplesHG04023
Known GenesTRPM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13513340
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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