A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730124



Internal ID9964440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:41411879..41412043hg38UCSC Ensembl
Outerchr5:41411981..41412145hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854873, essv6829957, essv6848747, essv6774407, essv6811109, essv6841011, essv6926599, essv6794422, essv6911092, essv6697756, essv6680194, essv6790284, essv6947581, essv6860517, essv6805223, essv6802383, essv6956619
SamplesSSM086, SSM033, SSM084, SSM088, SSM071, SSM024, SSM066, SSM073, SSM087, SSM038, SSM019, SSM074, SSM015, SSM026, SSM076, SSM081, SSM070
Known GenesPLCXD3
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)esv2730124
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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