A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11421316



Internal ID5657774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44373930..44375526hg38UCSC Ensembl
Innerchr4:44373930..44375526hg38UCSC Ensembl
Outerchr4:44373817..44375636hg38UCSC Ensembl
chr4:44375947..44377543hg19UCSC Ensembl
Innerchr4:44375947..44377543hg19UCSC Ensembl
Outerchr4:44375834..44377653hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg381597
hg191597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600392
Supporting Variants
SamplesNA19070
Known GenesKCTD8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11421316
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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