A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674148



Internal ID9940253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11930159..11935215hg38UCSC Ensembl
Outerchr1:11929788..11935585hg38UCSC Ensembl
Innerchr1:11990216..11995272hg19UCSC Ensembl
Outerchr1:11989845..11995642hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385798
hg195798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5726229, essv5579580, essv5652110, essv6300775, essv5396538, essv6062700, essv6516434, essv6287791, essv6255764, essv5970262, essv6134973, essv6229766, essv5548935, essv5975255
SamplesHG00181, HG00346, HG00277, HG00309, HG00326, HG00320, HG00344, HG00284, HG00339, HG00329, HG00342, HG00343, HG00274, HG00180
Known GenesPLOD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674148
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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