A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675350



Internal ID9941455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38961607..38991553hg38UCSC Ensembl
chr22:39357612..39387558hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3829947
hg1929947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv833e199
Supporting Variantsessv5611324, essv5684272, essv5640824, essv5851089, essv6282398, essv5859212, essv6385084, essv5694359, essv6168744, essv6111092, essv6187585, essv6488489, essv6437568, essv6213528, essv6563349, essv5727556
SamplesHG00650, HG00608, HG01374, HG00306, HG00699, HG00566, HG00501, NA19448, HG00118, HG00701, HG00500, HG00704, HG00463, NA19072, NA07051, HG00656
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675350
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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