A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675444



Internal ID9941549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50060745..50060831hg38UCSC Ensembl
Outerchr22:50060708..50060881hg38UCSC Ensembl
Innerchr22:50499174..50499260hg19UCSC Ensembl
Outerchr22:50499137..50499310hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6015029, essv6193423, essv6580633, essv5487171, essv5842082, essv6470657, essv5862456, essv5793391, essv5796446, essv6295521, essv6130699, essv6302243
SamplesHG00442, HG01173, HG01052, HG00693, HG01072, HG00260, HG00137, NA12003, HG00475, HG00418, HG00310, HG01082
Known GenesMLC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675444
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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