A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644482



Internal ID7031237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44388164..44434579hg38UCSC Ensembl
Innerchr19:44388181..44434562hg38UCSC Ensembl
Outerchr19:44388147..44434596hg38UCSC Ensembl
chr19:44892326..44938754hg19UCSC Ensembl
Innerchr19:44892343..44938737hg19UCSC Ensembl
Outerchr19:44892309..44938771hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3846416
hg1946429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16064643, essv16064641, essv16064646, essv16064640, essv16064644, essv16064642, essv16064639, essv16064637, essv16064645, essv16064638
SamplesNA18877, NA19315, NA20320, NA18874, NA19159, HG03352, NA18933, HG03291, NA18915, NA18858
Known GenesZNF229, ZNF285
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644482
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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