A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660556



Internal ID9579975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:324179..324636hg38UCSC Ensembl
Outerchr19:324142..324686hg38UCSC Ensembl
Innerchr19:324179..324636hg19UCSC Ensembl
Outerchr19:324142..324686hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5947603, essv5688040, essv6202375, essv6372649, essv5978263, essv6013380, essv5877930, essv5933350, essv6086354, essv6366689, essv5957201, essv5809375, essv5876029, essv6255824, essv6032613, essv5827391, essv6562425, essv6023568, essv5826663, essv6584665, essv5647911, essv5567805, essv6293478, essv6588870, essv5852127, essv6316288, essv5501825, essv6144462, essv5564982, essv5577514, essv6412097, essv5477229, essv6313185, essv6154915
SamplesHG00309, NA18870, HG01359, HG00252, NA12748, NA18951, HG01083, NA18501, NA20796, NA19072, NA18516, HG01488, NA18517, NA19257, NA18505, NA20521, NA19147, NA12763, NA18508, HG00337, NA20504, NA20530, NA18592, NA11831, HG00276, NA19457, HG00357, NA19190, NA12046, NA18558, NA18961, HG01080, NA20524, NA20519
Known GenesMIER2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660556
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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