A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730446



Internal ID9964762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88736193..88736526hg38UCSC Ensembl
Outerchr5:88032010..88032343hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865344, essv6854921, essv6860562, essv6822259, essv6890016, essv6811136, essv6943138, essv6817947, essv6899527, essv6881251, essv6683829, essv6670818, essv6676348, essv6963378, essv6853731, essv6826180, essv6907305, essv6774429, essv6848795, essv6893306, essv6869534, essv6974413, essv6956658
SamplesSSM100, SSM027, SSM011, SSM079, SSM087, SSM097, SSM088, SSM023, SSM090, SSM029, SSM026, SSM089, SSM094, SSM032, SSM031, SSM014, SSM086, SSM066, SSM078, SSM080, SSM076, SSM034, SSM098
Known GenesMEF2C
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)esv2730446
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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