A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723173



Internal ID10306809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220263034..220267543hg38UCSC Ensembl
Outerchr1:220436376..220440885hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384510
hg194510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840125, essv6696909, essv6804550, essv6937843, essv6793477, essv6738979, essv6736115, essv6836345
SamplesSSM083, SSM071, SSM050, SSM074, SSM084, SSM006, SSM022, SSM052
Known GenesAURKAPS1, RAB3GAP2
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)esv2723173
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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