A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652229



Internal ID15102400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194275702..194275791hg38UCSC Ensembl
Innerchr3:194275702..194275791hg38UCSC Ensembl
Outerchr3:194275316..194276672hg38UCSC Ensembl
chr3:193993491..193993580hg19UCSC Ensembl
Innerchr3:193993491..193993580hg19UCSC Ensembl
Outerchr3:193993105..193994461hg19UCSC Ensembl
chr3:195476185..195476274hg18UCSC Ensembl
Innerchr3:195476185..195476274hg18UCSC Ensembl
Outerchr3:195475799..195477155hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327485
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652229
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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