A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6066237



Internal ID9096137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172041326..172045391hg38UCSC Ensembl
Outerchr2:172041158..172045544hg38UCSC Ensembl
Innerchr2:172906237..172910119hg19UCSC Ensembl
Outerchr2:172906069..172910272hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384387
hg194204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676446
Supporting Variants
SamplesHG01079
Known GenesMETAP1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6066237
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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