A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739361



Internal ID9973702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6154912..6155373hg38UCSC Ensembl
Outerchr1:6214972..6215433hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679149, essv6699588, essv6846993
SamplesSSM086, SSM033, SSM039
Known GenesCHD5
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)esv2739361
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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