A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678333



Internal ID9597752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150006865..150070855hg38UCSC Ensembl
chr6:150328001..150391991hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3863991
hg1963991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6476943, essv5405750, essv6382280, essv5749887, essv5495436, essv5826744, essv5749612, essv5496300, essv6504590, essv5681832, essv6401050, essv5848768, essv5849414, essv6306853, essv6471793, essv5801785, essv6465433, essv6529578, essv6300078, essv5750072, essv6299217, essv5478196, essv6398769, essv5590833, essv5417802, essv6092885, essv5546863, essv5578305, essv5412868, essv6394661, essv6110635, essv6214569, essv5968751, essv6164373
SamplesHG00231, NA18947, HG00671, NA18592, NA19704, HG00315, HG00737, HG00337, HG00173, NA11918, HG00346, NA18949, HG00139, NA20539, HG01519, NA12044, NA20753, HG00732, HG00577, HG00556, NA19788, HG00531, HG00331, NA18532, HG01101, HG00140, HG01497, HG00141, NA18546, HG00611, HG00237, HG00662, HG00280, NA20585
Known GenesRAET1L, ULBP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678333
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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