A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11228550



Internal ID2398997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:173073563..173074458hg38UCSC Ensembl
Innerchr3:173073584..173074438hg38UCSC Ensembl
Outerchr3:173073543..173074479hg38UCSC Ensembl
chr3:172791353..172792248hg19UCSC Ensembl
Innerchr3:172791374..172792228hg19UCSC Ensembl
Outerchr3:172791333..172792269hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598684
Supporting Variants
SamplesHG02128
Known GenesSPATA16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11228550
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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