A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11483796



Internal ID1485612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68560721..68588835hg38UCSC Ensembl
Innerchr4:68560721..68588835hg38UCSC Ensembl
Outerchr4:68560221..68589335hg38UCSC Ensembl
chr4:69426439..69454553hg19UCSC Ensembl
Innerchr4:69426439..69454553hg19UCSC Ensembl
Outerchr4:69425939..69455053hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3828115
hg1928115
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600875
Supporting Variants
SamplesHG00881
Known GenesUGT2B17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11483796
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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