A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670272



Internal ID9589691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132914329..132916821hg38UCSC Ensembl
Outerchr2:132914292..132916871hg38UCSC Ensembl
Innerchr2:133671902..133674394hg19UCSC Ensembl
Outerchr2:133671865..133674444hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg382580
hg192580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6582326, essv6168536, essv5947706, essv6204639
SamplesHG00177, NA19678, HG00334, HG00320
Known GenesMIR7853, NCKAP5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670272
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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