A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644650



Internal ID7031404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50752126..50762910hg38UCSC Ensembl
chr19:51255383..51266167hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3810785
hg1910785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv668e214
Supporting Variantsessv16078597, essv16078599, essv16078604, essv16078601, essv16078600, essv16078602, essv16078598, essv16078596, essv16078603
SamplesNA18565, HG02433, HG02155, HG00598, HG02807, HG03695, HG01866, HG01933, HG04061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644650
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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