A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13945779



Internal ID3947595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116224272..116233301hg38UCSC Ensembl
Innerchr10:116224282..116233292hg38UCSC Ensembl
Outerchr10:116224263..116233311hg38UCSC Ensembl
chr10:117983784..117992813hg19UCSC Ensembl
Innerchr10:117983794..117992804hg19UCSC Ensembl
Outerchr10:117983775..117992823hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg389030
hg199030
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624651
Supporting Variants
SamplesHG02127
Known GenesGFRA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13945779
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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