A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662795



Internal ID9582214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6266526..6267171hg38UCSC Ensembl
chr19:6266537..6267182hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6059842, essv5764636, essv5524157, essv6549959, essv5480197, essv5590960, essv5778981
SamplesHG00592, NA18980, NA18614, NA18548, NA18626, HG00698, NA18612
Known GenesMLLT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662795
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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