A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669192



Internal ID9935297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33872481..33872658hg38UCSC Ensembl
chr19:34363386..34363563hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5456680, essv6067157, essv5715508, essv6173085, essv5831997, essv6247420, essv6552468, essv6218957, essv6321302, essv5854669, essv5846324, essv5613564, essv5860480, essv5407917, essv6217227, essv5645937
SamplesHG01441, HG01173, NA18621, HG00671, HG01374, HG01518, NA20356, HG01250, HG00275, HG00740, NA11919, NA19759, HG00614, NA19770, HG00343, HG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669192
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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