A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11648201



Internal ID3929808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147304554..147310775hg38UCSC Ensembl
Innerchr4:147304563..147310767hg38UCSC Ensembl
Outerchr4:147304546..147310784hg38UCSC Ensembl
chr4:148225706..148231927hg19UCSC Ensembl
Innerchr4:148225715..148231919hg19UCSC Ensembl
Outerchr4:148225698..148231936hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg386222
hg196222
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602596
Supporting Variants
SamplesHG03583
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11648201
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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