A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748452



Internal ID10329422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:55508808..55509448hg38UCSC Ensembl
Outerchr1:55974481..55975121hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6729659, essv6747810, essv6946526, essv6816987, essv6961615, essv6933342, essv6889030, essv6764191, essv6810360, essv6921766, essv6738841, essv6910085, essv6832628, essv6719176, essv6929106, essv6941827, essv6766574, essv6744971, essv6950540, essv6801644, essv6689291, essv6840006, essv6847072
SamplesSSM036, SSM027, SSM024, SSM064, SSM097, SSM073, SSM023, SSM084, SSM021, SSM047, SSM018, SSM086, SSM082, SSM020, SSM007, SSM015, SSM076, SSM010, SSM055, SSM004, SSM052, SSM056, SSM063
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2748452
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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