A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675606



Internal ID9941711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21834113..21837418hg38UCSC Ensembl
chr5:21834222..21837527hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg383306
hg193306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5713115, essv6317221, essv5498387, essv5766979, essv6431817, essv6200116, essv5566068, essv6439282, essv5714354, essv6535625
SamplesNA19355, NA18504, NA19443, NA18942, NA18498, NA18874, NA19473, NA19470, NA19093, NA07000
Known GenesCDH12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675606
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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