A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657445



Internal ID9923550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:22117443..22122591hg38UCSC Ensembl
chr5:22117552..22122700hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg385149
hg195149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6230013, essv6193291, essv6472583, essv6306392, essv5669888, essv6374965
SamplesHG01374, NA11918, HG01354, HG01134, HG01137, HG01489
Known GenesCDH12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657445
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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