A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598186



Internal ID6638451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151745783..151757962hg38UCSC Ensembl
Innerchr3:151745783..151757962hg38UCSC Ensembl
Outerchr3:151745569..151758159hg38UCSC Ensembl
chr3:151463571..151475750hg19UCSC Ensembl
Innerchr3:151463571..151475750hg19UCSC Ensembl
Outerchr3:151463357..151475947hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3812180
hg1912180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11185947, essv11185944, essv11185945, essv11185948, essv11185946
SamplesHG04076, HG02658, NA20911, NA20850, HG03950
Known GenesAADACL2, MIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598186
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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