A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731348



Internal ID9965665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180639141..180639378hg38UCSC Ensembl
Outerchr5:180066141..180066378hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767417, essv6869594, essv6969247, essv6855070, essv6690318, essv6956816, essv6854510, essv6911208, essv6860682, essv6872634, essv6711724, essv6963538, essv6848949, essv6759520, essv6826271, essv6694046, essv6670961, essv6886923, essv6730769, essv6680293, essv6727632, essv6927152, essv6764921, essv6890101, essv6844803, essv6907417, essv6814218, essv6727026, essv6899594, essv6683905, essv6884122, essv6811205, essv6676436, essv6865448, essv6922945, essv6881316, essv6974598, essv6745863, essv6774516, essv6697839, essv6754434, essv6934587, essv6708312, essv6802478, essv6719299, essv6822351, essv6825009, essv6893393, essv6818071, essv6704890, essv6794537, essv6959618, essv6808302, essv6798724
SamplesSSM010, SSM007, SSM027, SSM086, SSM036, SSM055, SSM091, SSM033, SSM042, SSM040, SSM078, SSM088, SSM089, SSM090, SSM064, SSM031, SSM072, SSM071, SSM032, SSM094, SSM097, SSM041, SSM077, SSM100, SSM085, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM021, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM096, SSM079, SSM044, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM058, SSM080
Known GenesFLT4
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)esv2731348
Frequency
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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