A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668737



Internal ID9934842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2093208..2095905hg38UCSC Ensembl
Outerchr1:2093051..2096058hg38UCSC Ensembl
Innerchr1:2024647..2027344hg19UCSC Ensembl
Outerchr1:2024490..2027497hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383008
hg193008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5502714, essv6315088, essv5900192, essv6396289, essv6220938, essv6308201, essv6028858, essv5500049, essv6564858, essv5894647, essv5657047, essv5633795, essv6574210, essv5681468, essv5690079, essv6255118, essv5636927, essv5950655, essv6229381, essv5797826, essv5586775, essv6249120, essv6422341, essv5668953, essv6474764, essv5892031, essv5562511, essv5592270, essv5597900, essv5828436, essv6231552, essv5817670, essv6566834, essv6423410, essv5420709, essv6085392, essv5521064, essv6154406, essv5886970, essv6479850, essv6295269
SamplesNA12717, NA11829, NA18508, NA18486, NA12751, NA12004, NA18504, NA12750, NA19107, NA18967, NA07346, NA11992, NA07347, NA19138, NA19238, NA12044, NA19172, NA19159, NA18520, NA19239, NA11993, NA11831, NA19152, NA18516, NA18871, NA18976, NA18981, NA11919, NA12892, NA18853, NA18523, NA18974, NA18953, NA19240, NA19144, NA07051, NA12763, NA19116, NA18972, NA18522, NA19676
Known GenesPRKCZ
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668737
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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