A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600250



Internal ID6987294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37659629..37660266hg38UCSC Ensembl
Innerchr4:37659679..37660216hg38UCSC Ensembl
Outerchr4:37659541..37660354hg38UCSC Ensembl
chr4:37661251..37661888hg19UCSC Ensembl
Innerchr4:37661301..37661838hg19UCSC Ensembl
Outerchr4:37661163..37661976hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11396051, essv11396050
SamplesNA20538, HG01395
Known GenesRELL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600250
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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