A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10199531



Internal ID201347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179638125..179638930hg38UCSC Ensembl
Innerchr1:179638137..179638918hg38UCSC Ensembl
Outerchr1:179638113..179638942hg38UCSC Ensembl
chr1:179607260..179608065hg19UCSC Ensembl
Innerchr1:179607272..179608053hg19UCSC Ensembl
Outerchr1:179607248..179608077hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38806
hg19806
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588056
Supporting Variants
SamplesNA06984
Known GenesTDRD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10199531
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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