A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674391



Internal ID9593810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18736368..18736739hg38UCSC Ensembl
Outerchr19:18736211..18736892hg38UCSC Ensembl
Innerchr19:18847178..18847549hg19UCSC Ensembl
Outerchr19:18847021..18847702hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6082499, essv5611828, essv6040068, essv5585457, essv6394686, essv6382452, essv6025367, essv5635814, essv5903886
SamplesNA19332, NA19704, NA19916, NA18868, NA19371, HG01101, NA19439, NA19398, NA19223
Known GenesCRTC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674391
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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