A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585020



Internal ID6972545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2093108..2095944hg38UCSC Ensembl
Innerchr1:2093109..2095944hg38UCSC Ensembl
Outerchr1:2093108..2095945hg38UCSC Ensembl
chr1:2024547..2027383hg19UCSC Ensembl
Innerchr1:2024548..2027383hg19UCSC Ensembl
Outerchr1:2024547..2027384hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382837
hg192837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841581, essv9841596, essv9841583, essv9841584, essv9841598, essv9841585, essv9841582, essv9841594, essv9841593, essv9841589, essv9841587, essv9841592, essv9841579, essv9841586, essv9841597, essv9841595, essv9841590, essv9841591, essv9841588, essv9841580
SamplesHG03366, NA18508, HG03517, HG02852, HG03172, NA19107, NA18923, HG03370, HG03342, HG02854, HG03380, NA19239, HG03267, HG02479, HG03291, HG02429, NA19390, HG03112, HG02974, NA19676
Known GenesPRKCZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585020
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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