A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731169



Internal ID10314805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176529987..176530579hg38UCSC Ensembl
Outerchr5:175956988..175957580hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38593
hg19593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6956789, essv6875588, essv6907402, essv6875375, essv6770669, essv6860667, essv6793798, essv6855047, essv6865431, essv6974566, essv6757302, essv6727521, essv6963513, essv6927074, essv6690305, essv6794523, essv6911187, essv6934568, essv6848927, essv6743036, essv6670943, essv6677410, essv6667475
SamplesSSM059, SSM036, SSM071, SSM027, SSM065, SSM087, SSM009, SSM088, SSM002, SSM092, SSM021, SSM029, SSM026, SSM089, SSM003, SSM031, SSM014, SSM086, SSM007, SSM015, SSM053, SSM005, SSM030
Known GenesRNF44
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)esv2731169
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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