A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673252



Internal ID9939357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131495988..131496703hg38UCSC Ensembl
chr7:131180747..131181462hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5942454, essv6051615, essv5716753
SamplesNA19397, NA19396, NA19346
Known GenesMKLN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673252
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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