A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5726176



Internal ID8703579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247548963..247568887hg38UCSC Ensembl
Innerchr1:247712265..247732189hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3819925
hg1919925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666510
Supporting Variants
SamplesNA19239
Known GenesGCSAML
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5726176
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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