A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721255



Internal ID9955551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:188979919..188980713hg38UCSC Ensembl
Outerchr2:189844645..189845439hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807725, essv6819821, essv6797919, essv6730028, essv6700092, essv6973159, essv6722077, essv6853899, essv6773848, essv6693258, essv6906560, essv6938115, essv6714663, essv6739201, essv6955491, essv6752453, essv6769955, essv6825459, essv6922198, essv6942298, essv6962254, essv6750924, essv6742473, essv6722408, essv6917881, essv6726277, essv6840395, essv6745256, essv6929543, essv6759372
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM053, SSM055, SSM084, SSM061, SSM043, SSM072, SSM020, SSM057, SSM039, SSM045, SSM017, SSM066, SSM029, SSM047, SSM037, SSM087, SSM046, SSM023, SSM052, SSM075, SSM026, SSM014, SSM008, SSM018, SSM080
Known GenesCOL3A1
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)esv2721255
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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