A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13870276



Internal ID1288524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79923186..80075168hg38UCSC Ensembl
chr10:81682942..81834924hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38151983
hg19151983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623933
Supporting Variants
SamplesHG01133
Known GenesLOC100288974, SFTPD, TMEM254-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13870276
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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