A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600466



Internal ID6987509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48709118..48719546hg38UCSC Ensembl
Innerchr4:48709118..48719546hg38UCSC Ensembl
Outerchr4:48708618..48720046hg38UCSC Ensembl
chr4:48711135..48721563hg19UCSC Ensembl
Innerchr4:48711135..48721563hg19UCSC Ensembl
Outerchr4:48710635..48722063hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3810429
hg1910429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11429529, essv11429532, essv11429530, essv11429531
SamplesHG01970, NA18988, HG01871, NA19747
Known GenesFRYL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600466
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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