A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727487



Internal ID10311123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:41443140..41443298hg38UCSC Ensembl
Outerchr4:41445157..41445315hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829699, essv6956098, essv6848259, essv6962816, essv6864922, essv6854420
SamplesSSM027, SSM087, SSM026, SSM089, SSM086, SSM081
Known GenesLIMCH1
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)esv2727487
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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