A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5471156



Internal ID9722462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13075095..13113701hg38UCSC Ensembl
Outerchr21:13074724..13114071hg38UCSC Ensembl
Innerchr21:14447416..14486022hg19UCSC Ensembl
Outerchr21:14447045..14486392hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3839348
hg1939348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666923
Supporting Variants
SamplesNA19473
Known GenesANKRD30BP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5471156
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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