A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6790955



Internal ID10005579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37036432..37037422hg38UCSC Ensembl
Outerchr4:37038054..37039044hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38991
hg19991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727414
Supporting Variants
SamplesSSM009
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)essv6790955
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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