A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600354



Internal ID6987398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42479936..42490305hg38UCSC Ensembl
Innerchr4:42479936..42490305hg38UCSC Ensembl
Outerchr4:42479436..42490805hg38UCSC Ensembl
chr4:42481953..42492322hg19UCSC Ensembl
Innerchr4:42481953..42492322hg19UCSC Ensembl
Outerchr4:42481453..42492822hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3810370
hg1910370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11410755
SamplesHG01977
Known GenesATP8A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600354
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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