A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718485



Internal ID10302121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157204042..157205608hg38UCSC Ensembl
Outerchr1:157173832..157175398hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381567
hg191567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874800, essv6729734, essv6906209, essv6722096, essv6756638, essv6954926, essv6864098, essv6761923, essv6889106, essv6773549, essv6666967, essv6777040, essv6753602, essv6725963, essv6910168, essv6689355, essv6764248, essv6789259, essv6937789, essv6967928, essv6933414, essv6844798, essv6880510, essv6682925
SamplesSSM059, SSM036, SSM045, SSM046, SSM011, SSM097, SSM058, SSM092, SSM021, SSM047, SSM062, SSM026, SSM089, SSM094, SSM067, SSM001, SSM014, SSM066, SSM015, SSM022, SSM070, SSM034, SSM030, 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)esv2718485
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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