A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6121291



Internal ID9231560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:57804358..57807389hg38UCSC Ensembl
Outerchr1:57804321..57807439hg38UCSC Ensembl
Innerchr1:58270030..58273061hg19UCSC Ensembl
Outerchr1:58269993..58273111hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg383119
hg193119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663515
Supporting Variants
SamplesNA11919
Known GenesDAB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6121291
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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