A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746463



Internal ID10327433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31907663..31908391hg38UCSC Ensembl
Outerchr1:32373264..32373992hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666914, essv6747799, essv6933325, essv6668979, essv6847045, essv6954775, essv6874722, essv6735986, essv6972384, essv6961590, essv6853262, essv6784809, essv6773455, essv6756567, essv6859211, essv6916907
SamplesSSM059, SSM027, SSM087, SSM009, SSM050, SSM088, SSM092, SSM021, SSM029, SSM026, SSM003, SSM031, SSM086, SSM066, SSM056, SSM030
Known GenesPTP4A2
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)esv2746463
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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