A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727484



Internal ID10311120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:41442456..41443969hg38UCSC Ensembl
Outerchr4:41444473..41445986hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg381514
hg191514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730371, essv6757035, essv6754111, essv6829699, essv6973809, essv6759625, essv6745518, essv6916040, essv6848820, essv6968783, essv6956098, essv6748349, essv6848259, essv6962816, essv6739491, essv6742716, essv6734001, essv6864922, essv6923451, essv6883398, essv6751194, essv6854420, essv6910824, essv6774158
SamplesSSM059, SSM027, SSM087, SSM002, SSM057, SSM058, SSM028, SSM047, SSM061, SSM029, SSM026, SSM089, SSM003, SSM001, SSM086, SSM066, SSM081, SSM015, SSM053, SSM055, SSM052, SSM049, SSM056, SSM012
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)esv2727484
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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