A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10013509



Internal ID15325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91766494..91767774hg38UCSC Ensembl
Innerchr1:91766494..91767774hg38UCSC Ensembl
Outerchr1:91766170..91768100hg38UCSC Ensembl
chr1:92232051..92233331hg19UCSC Ensembl
Innerchr1:92232051..92233331hg19UCSC Ensembl
Outerchr1:92231727..92233657hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381281
hg191281
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586795
Supporting Variants
SamplesHG03079
Known GenesTGFBR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10013509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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