A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597166



Internal ID6984480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100060429..100097575hg38UCSC Ensembl
Innerchr3:100060456..100097549hg38UCSC Ensembl
Outerchr3:100060403..100097602hg38UCSC Ensembl
chr3:99779273..99816419hg19UCSC Ensembl
Innerchr3:99779300..99816393hg19UCSC Ensembl
Outerchr3:99779247..99816446hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3837147
hg1937147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv916e214
Supporting Variantsessv11083883, essv11083884, essv11083882
SamplesNA21110, NA21129, HG03940
Known GenesCMSS1, FILIP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597166
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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