A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661476



Internal ID9927581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:548816..553922hg38UCSC Ensembl
Outerchr19:548445..554292hg38UCSC Ensembl
Innerchr19:548816..553922hg19UCSC Ensembl
Outerchr19:548445..554292hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385848
hg195848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6420477, essv6243641, essv6229380, essv6282010, essv6386875, essv5544439, essv5407429, essv6040955, essv6148182, essv6188091, essv6009275, essv6589094, essv6068358, essv5716979, essv6345389, essv5783562, essv6185679, essv5571341, essv5399667, essv6130847, essv6405166, essv6436340
SamplesNA19648, NA19664, NA19777, NA19678, NA19723, NA19681, NA19720, NA19651, NA19719, NA19722, NA19725, NA19657, NA19717, NA19663, NA19654, NA19682, NA19675, NA19652, NA19679, NA19716, NA19726, NA19676
Known GenesGZMM
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661476
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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