A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6018258



Internal ID9887654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205249219..205256890hg38UCSC Ensembl
Outerchr2:205249062..205257043hg38UCSC Ensembl
Innerchr2:206113943..206121614hg19UCSC Ensembl
Outerchr2:206113786..206121767hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387982
hg197982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671711
Supporting Variants
SamplesNA20766
Known GenesPARD3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6018258
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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