A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079258



Internal ID81074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113871703..113936287hg38UCSC Ensembl
chr1:114414325..114478909hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3864585
hg1964585
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587251
Supporting Variants
SamplesNA18523
Known GenesAP4B1, AP4B1-AS1, BCL2L15, DCLRE1B, HIPK1, PTPN22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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