A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894732



Internal ID6520025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28377044..28381307hg38UCSC Ensembl
Innerchr1:28377544..28380807hg38UCSC Ensembl
Outerchr1:28376044..28382307hg38UCSC Ensembl
chr1:28703555..28707818hg19UCSC Ensembl
Innerchr1:28704055..28707318hg19UCSC Ensembl
Outerchr1:28702555..28708818hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg384264
hg194264
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585579
Supporting Variants
SamplesHG03750
Known GenesPHACTR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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