A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743697



Internal ID10324667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10661924..10662528hg38UCSC Ensembl
Outerchr1:10721981..10722585hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675193, essv6725845, essv6696984, essv6954733, essv6859179, essv6797441, essv6868704, essv6876721, essv6789144, essv6853227, essv6929054, essv6813162, essv6793275, essv6843877, essv6703857, essv6682818, essv6946483
SamplesSSM071, SSM024, SSM046, SSM087, SSM038, SSM088, SSM090, SSM026, SSM032, SSM085, SSM040, SSM072, SSM020, SSM077, SSM070, SSM034, SSM012
Known GenesCASZ1
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)esv2743697
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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