A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11384253



Internal ID5430888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:30817510..30828390hg38UCSC Ensembl
Innerchr4:30817560..30828341hg38UCSC Ensembl
Outerchr4:30817461..30828440hg38UCSC Ensembl
chr4:30819132..30830012hg19UCSC Ensembl
Innerchr4:30819182..30829963hg19UCSC Ensembl
Outerchr4:30819083..30830062hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3810881
hg1910881
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600075
Supporting Variants
SamplesNA18956
Known GenesPCDH7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11384253
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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