A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14777457



Internal ID4779273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66253178..66349265hg38UCSC Ensembl
Innerchr13:66253200..66349244hg38UCSC Ensembl
Outerchr13:66253157..66349287hg38UCSC Ensembl
chr13:66827310..66923397hg19UCSC Ensembl
Innerchr13:66827332..66923376hg19UCSC Ensembl
Outerchr13:66827289..66923419hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3896088
hg1996088
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632502
Supporting Variants
SamplesHG00128
Known GenesPCDH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14777457
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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