A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600293



Internal ID6640557
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11401417
SamplesHG03951
Known GenesPDS5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600293
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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