A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5998161



Internal ID9717269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:173425613..173428233hg38UCSC Ensembl
Outerchr1:173425456..173428386hg38UCSC Ensembl
Innerchr1:173394752..173397372hg19UCSC Ensembl
Outerchr1:173394595..173397525hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg382931
hg192931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666971
Supporting Variants
SamplesNA19469
Known GenesLOC100506023
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5998161
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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