A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663000



Internal ID9929105
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 StatusM
Merged Variants
Supporting Variantsessv5564635, essv5765947, essv6306149, essv5444140, essv5536100, essv5619264, essv5773149
SamplesHG01441, HG00257, HG00247, HG00263, NA20538, NA20758, HG01191
Known GenesRGS7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663000
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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