A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9928054



Internal ID3556563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49001427..49104950hg38UCSC Ensembl
chr1:49467099..49570622hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38103524
hg19103524
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585985
Supporting Variants
SamplesHG03135
Known GenesAGBL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9928054
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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