A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11401417



Internal ID1403233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39827687..39830798hg38UCSC Ensembl
Innerchr4:39827687..39830798hg38UCSC Ensembl
Outerchr4:39827459..39831026hg38UCSC Ensembl
chr4:39829307..39832418hg19UCSC Ensembl
Innerchr4:39829307..39832418hg19UCSC Ensembl
Outerchr4:39829079..39832646hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg383112
hg193112
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600293
Supporting Variants
SamplesHG03951
Known GenesPDS5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11401417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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