A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662745



Internal ID9928850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241457401..241457725hg38UCSC Ensembl
chr2:242396816..242397140hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5921253, essv5457650, essv6040304, essv5887079, essv6525713, essv6049170, essv5553801, essv6231970, essv5735462, essv6058050, essv5772586, essv6069212, essv6058906, essv5411732, essv5735746, essv6579187, essv5510240, essv5396052, essv6123695, essv6242271, essv6528965, essv5471387, essv6471979, essv6389215, essv6288604, essv5647469, essv5917189, essv6105899, essv6259797, essv6191843
SamplesHG01441, NA19703, NA11829, HG01052, HG00187, HG01079, HG01389, NA20507, NA12750, HG00693, NA18597, NA18595, NA19138, NA19130, HG00158, HG00139, NA20539, NA20775, NA12889, NA19462, HG00475, NA20525, NA18632, NA18543, HG00278, NA20516, HG00662, HG00620, HG00707, NA18636
Known GenesFARP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662745
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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