A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668944



Internal ID9935049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16506887..16659522hg38UCSC Ensembl
Outerchr1:16506846..16659564hg38UCSC Ensembl
Innerchr1:16833382..16986017hg19UCSC Ensembl
Outerchr1:16833341..16986059hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38152719
hg19152719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e199
Supporting Variantsessv6423946, essv5470937, essv6285950, essv6164936, essv5414081, essv6454945, essv5653226
SamplesNA18599, HG00236, HG00427, HG00336, HG00418, HG00123, HG01082
Known GenesCROCCP2, MIR3675, MST1P2, NBPF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668944
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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