A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6207627



Internal ID9624795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11981576..11992314hg38UCSC Ensembl
Outerchr2:11981539..11992364hg38UCSC Ensembl
Innerchr2:12121702..12132440hg19UCSC Ensembl
Outerchr2:12121665..12132490hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3810826
hg1910826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677665
Supporting Variants
SamplesNA19338
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6207627
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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