A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5863124



Internal ID9108184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23928366..23933277hg38UCSC Ensembl
Outerchr2:23928329..23933327hg38UCSC Ensembl
Innerchr2:24151236..24156147hg19UCSC Ensembl
Outerchr2:24151199..24156197hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg384999
hg194999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658964
Supporting Variants
SamplesHG01102
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5863124
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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