A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11595797



Internal ID2017296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:126506893..126780508hg38UCSC Ensembl
chr4:127428048..127701663hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38273616
hg19273616
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602126
Supporting Variants
SamplesHG01859
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11595797
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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