A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727536



Internal ID10311172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47976122..47976357hg38UCSC Ensembl
Outerchr4:47978139..47978374hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6844514, essv6956429, essv6886563, essv6670242, essv6848273, essv6973825, essv6822188, essv6693636, essv6810890, essv6872323, essv6675978, essv6817518, essv6850786, essv6805028, essv6947292, essv6700470, essv6934144, essv6789968, essv6726612
SamplesSSM024, SSM046, SSM011, SSM039, SSM074, SSM021, SSM029, SSM096, SSM032, SSM031, SSM086, SSM085, SSM078, SSM037, SSM076, SSM010, SSM091, SSM070, SSM004
Known GenesCNGA1
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)esv2727536
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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