A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724994



Internal ID10308630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232639759..232640105hg38UCSC Ensembl
Outerchr1:232775505..232775851hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898769, essv6929257, essv6864188, essv6699801, essv6710760, essv6877807, essv6807538, essv6889179, essv6692979, essv6906294, essv6707425, essv6950747, essv6682994, essv6704019, essv6859418, essv6797650, essv6726030, essv6853515, essv6892491, essv6946669, essv6972687, essv6816818, essv6925856
SamplesSSM100, SSM024, SSM075, SSM046, SSM087, SSM097, SSM039, SSM093, SSM042, SSM088, SSM041, SSM029, SSM089, SSM019, SSM014, SSM040, SSM072, SSM020, SSM078, SSM037, SSM025, SSM034, SSM098
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)esv2724994
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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