A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672441



Internal ID9938546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1455518..1456275hg38UCSC Ensembl
chr7:1495154..1495911hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6174006, essv6527044, essv5615102, essv6378328, essv5603310, essv6555820, essv6003986, essv5816435
SamplesHG01060, HG00640, NA12761, NA11930, NA20819, HG00245, NA20801, NA12006
Known GenesMICALL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672441
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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