A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6797434



Internal ID9856136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6160147..6160416hg38UCSC Ensembl
Outerchr1:6220207..6220476hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739584, esv2739473
Supporting Variants
SamplesSSM072
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)essv6797434
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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