A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600315



Internal ID6987359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40642043..40654080hg38UCSC Ensembl
Innerchr4:40642043..40654080hg38UCSC Ensembl
Outerchr4:40641543..40654580hg38UCSC Ensembl
chr4:40644060..40656097hg19UCSC Ensembl
Innerchr4:40644060..40656097hg19UCSC Ensembl
Outerchr4:40643560..40656597hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3812038
hg1912038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11404796, essv11404795
SamplesNA18980, NA18994
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600315
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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