A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730123



Internal ID9964439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:41411618..41412331hg38UCSC Ensembl
Outerchr5:41411720..41412433hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854873, essv6758342, essv6829957, essv6715297, essv6848747, essv6754315, essv6774407, essv6745750, essv6708199, essv6811109, essv6841011, essv6748550, essv6926599, essv6794422, essv6911092, essv6697756, essv6926118, essv6680194, essv6736783, essv6742937, essv6790284, essv6726687, essv6947581, essv6974343, essv6764839, essv6751401, essv6860517, essv6805223, essv6802383, essv6956619
SamplesSSM007, SSM053, SSM086, SSM055, SSM033, SSM084, SSM043, SSM088, SSM071, SSM057, SSM024, SSM050, SSM041, SSM056, SSM066, SSM029, SSM003, SSM073, SSM063, SSM087, SSM038, SSM019, SSM074, SSM015, SSM026, SSM008, SSM076, SSM058, 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)esv2730123
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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