A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599214



Internal ID6986262
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11286337, essv11286338, essv11286335, essv11286336
SamplesHG01488, HG02570, NA19395, HG02371
Known GenesLOC100507391
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599214
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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