A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676486



Internal ID9595905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54052562..54058468hg38UCSC Ensembl
Outerchr19:54052191..54058838hg38UCSC Ensembl
Innerchr19:54555816..54561722hg19UCSC Ensembl
Outerchr19:54555445..54562092hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg386648
hg196648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv663e199
Supporting Variantsessv5520580, essv6092528, essv5785545, essv5509904
SamplesHG01521, HG01518, HG01522, HG01515
Known GenesVSTM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676486
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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