A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6923407



Internal ID9987314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330857..37331284hg38UCSC Ensembl
Outerchr4:37332479..37332906hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727424, esv2727422, esv2727419, esv2727421, esv2727417, esv2727420
Supporting Variants
SamplesSSM003
Known GenesKIAA1239
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)essv6923407
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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