A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678049



Internal ID9944154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45225442..45226758hg38UCSC Ensembl
Outerchr19:45225268..45226944hg38UCSC Ensembl
Innerchr19:45728700..45730016hg19UCSC Ensembl
Outerchr19:45728526..45730202hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381677
hg191677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5788888, essv5513302, essv6405616
SamplesHG00531, HG00513, NA18549
Known GenesEXOC3L2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678049
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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