A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11145384



Internal ID1147200
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597741
Supporting Variants
SamplesHG02256
Known GenesEFCAB12, IFT122, MBD4, RPL32P3, SNORA7B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11145384
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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