A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6048407



Internal ID9025810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44902478..44902627hg38UCSC Ensembl
Outerchr21:44902441..44902677hg38UCSC Ensembl
Innerchr21:46322393..46322542hg19UCSC Ensembl
Outerchr21:46322356..46322592hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2673395
Supporting Variants
SamplesNA19380
Known GenesITGB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6048407
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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