A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11527225



Internal ID1529041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87289406..87409657hg38UCSC Ensembl
chr4:88210558..88330809hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38120252
hg19120252
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601271
Supporting Variants
SamplesHG03240
Known GenesHSD17B11, HSD17B13, MIR5705
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11527225
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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