A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5619264



Internal ID8802384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240932937..240933989hg38UCSC Ensembl
Outerchr1:240932900..240934039hg38UCSC Ensembl
Innerchr1:241096237..241097289hg19UCSC Ensembl
Outerchr1:241096200..241097339hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381140
hg191140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663000
Supporting Variants
SamplesHG00247
Known GenesRGS7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5619264
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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