A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11286337



Internal ID2896746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194692518..194719457hg38UCSC Ensembl
Innerchr3:194692518..194719457hg38UCSC Ensembl
Outerchr3:194692333..194719701hg38UCSC Ensembl
chr3:194413247..194440186hg19UCSC Ensembl
Innerchr3:194413247..194440186hg19UCSC Ensembl
Outerchr3:194413062..194440430hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3826940
hg1926940
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599214
Supporting Variants
SamplesHG02570
Known GenesLOC100507391
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11286337
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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