A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661790



Internal ID9927895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6758248..6759343hg38UCSC Ensembl
Outerchr19:6758211..6759393hg38UCSC Ensembl
Innerchr19:6758259..6759354hg19UCSC Ensembl
Outerchr19:6758222..6759404hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381183
hg191183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6436308
SamplesNA19701
Known GenesSH2D3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661790
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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