A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667343



Internal ID9586762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9992674..10003157hg38UCSC Ensembl
Outerchr1:9992637..10003207hg38UCSC Ensembl
Innerchr1:10052732..10063215hg19UCSC Ensembl
Outerchr1:10052695..10063265hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3810571
hg1910571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6049608
SamplesHG01366
Known GenesRBP7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667343
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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