A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677880



Internal ID9597299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25264825..25335931hg38UCSC Ensembl
Outerchr1:25264454..25336301hg38UCSC Ensembl
Innerchr1:25591316..25662422hg19UCSC Ensembl
Outerchr1:25590945..25662792hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3871848
hg1971848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5800248, essv5466236, essv6512070, essv5540999, essv6125030
SamplesHG01518, HG01519, HG01521, HG01516, HG01522
Known GenesRHD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677880
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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