A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10095640



Internal ID1235061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149034951..149045364hg38UCSC Ensembl
chr1:144839080..144849492hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3810414
hg1910413
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587393
Supporting Variants
SamplesHG01094
Known GenesLOC100288142, NBPF9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10095640
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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