A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597741



Internal ID6638008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129383049..129486193hg38UCSC Ensembl
Innerchr3:129383049..129486193hg38UCSC Ensembl
Outerchr3:129382549..129486693hg38UCSC Ensembl
chr3:129101892..129205036hg19UCSC Ensembl
Innerchr3:129101892..129205036hg19UCSC Ensembl
Outerchr3:129101392..129205536hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38103145
hg19103145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11145384
SamplesHG02256
Known GenesEFCAB12, IFT122, MBD4, RPL32P3, SNORA7B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597741
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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