A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6451693



Internal ID9429096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1629636..1632643hg38UCSC Ensembl
Outerchr1:1629265..1633013hg38UCSC Ensembl
Innerchr1:1565016..1568022hg19UCSC Ensembl
Outerchr1:1564645..1568392hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383749
hg193748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659399
Supporting Variants
SamplesHG00123
Known GenesMIB2, MMP23A, MMP23B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6451693
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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