A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6794156



Internal ID9853172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:56057794..56058038hg38UCSC Ensembl
Outerchr4:56923960..56924204hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727638
Supporting Variants
SamplesSSM071
Known Genes
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)essv6794156
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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