A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673740



Internal ID9939845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74738346..74738578hg38UCSC Ensembl
chr18:72450302..72450534hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5485044, essv5413124, essv5940688, essv6457629, essv5411439, essv6458211, essv6439422, essv6538595, essv6095629, essv6378327, essv6298621, essv5766181
SamplesNA19393, HG01051, NA19920, NA19383, HG01047, NA19452, NA19401, NA19380, NA19398, NA19328, HG01378, NA20322
Known GenesZNF407
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673740
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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