A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11185950



Internal ID5148413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151759844..151762316hg38UCSC Ensembl
Innerchr3:151759844..151762316hg38UCSC Ensembl
Outerchr3:151759540..151762597hg38UCSC Ensembl
chr3:151477632..151480104hg19UCSC Ensembl
Innerchr3:151477632..151480104hg19UCSC Ensembl
Outerchr3:151477328..151480385hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg382473
hg192473
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598187
Supporting Variants
SamplesNA18577
Known GenesMIR548H2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11185950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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