A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13596811



Internal ID3598627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110067914..110068620hg38UCSC Ensembl
Innerchr9:110067915..110068620hg38UCSC Ensembl
Outerchr9:110067914..110068621hg38UCSC Ensembl
chr9:112830194..112830900hg19UCSC Ensembl
Innerchr9:112830195..112830900hg19UCSC Ensembl
Outerchr9:112830194..112830901hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621452
Supporting Variants
SamplesNA19214
Known GenesAKAP2, PALM2-AKAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13596811
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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