A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666795



Internal ID9932900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1816407..1823940hg38UCSC Ensembl
chr7:1856043..1863576hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg387534
hg197534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5524531, essv6123018, essv6471997, essv6042943
SamplesNA12843, HG01374, HG00306, HG01149
Known GenesMAD1L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666795
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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