A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731063



Internal ID10314699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:170375176..170376154hg38UCSC Ensembl
Outerchr5:169802180..169803158hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38979
hg19979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6926666, essv6667469, essv6782053, essv6730752, essv6727420, essv6951735, essv6934557, essv6938860, essv6704872, essv6680268, essv6930320, essv6969223, essv6822327, essv6837296, essv6790368, essv6802466, essv6974543, essv6956771, essv6770652, essv6774493, essv6830053, essv6943219, essv6963495
SamplesSSM083, SSM027, SSM079, SSM065, SSM073, SSM023, SSM028, SSM021, SSM047, SSM029, SSM026, SSM019, SSM033, SSM066, SSM068, SSM081, SSM040, SSM020, SSM007, SSM022, SSM070, SSM025, SSM030
Known GenesKCNIP1
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)esv2731063
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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