A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731346



Internal ID9965663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180615541..180616146hg38UCSC Ensembl
Outerchr5:180042541..180043146hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704889, essv6680292, essv6890100, essv6956815, essv6778070, essv6841138, essv6865447, essv6974597, essv6878523, essv6822350, essv6848948, essv6683904, essv6690317, essv6770682, essv6794536, essv6830071, essv6911207, essv6833667
SamplesSSM036, SSM071, SSM079, SSM065, SSM097, SSM093, SSM084, SSM029, SSM026, SSM089, SSM067, SSM086, SSM033, SSM081, SSM040, SSM082, SSM015, SSM034
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)esv2731346
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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