A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719228



Internal ID9953520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168055382..168056404hg38UCSC Ensembl
Outerchr1:168024620..168025642hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847216, essv6929195, essv6933425, essv6742248, essv6898709, essv6804511, essv6777052, essv6816742, essv6809486, essv6874809, essv6766648, essv6880523, essv6832705, essv6829123, essv6773560, essv6883340, essv6844965, essv6950679, essv6749686, essv6769648, essv6864113, essv6895945, essv6972578, essv6937802, essv6719765
SamplesSSM100, SSM008, SSM011, SSM064, SSM065, SSM074, SSM002, SSM092, SSM021, SSM029, SSM089, SSM094, SSM067, SSM086, SSM066, SSM081, SSM082, SSM020, SSM007, SSM078, SSM053, SSM022, SSM095, SSM025, SSM099
Known GenesDCAF6
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)esv2719228
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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