A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730379



Internal ID10314015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80743533..80743843hg38UCSC Ensembl
Outerchr5:80039352..80039662hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907300, essv6826170, essv6865335, essv6956652, essv6974399, essv6687074, essv6848782, essv6958884, essv6878447, essv6719217, essv6670803, essv6822256, essv6860551, essv6777976, essv6854911, essv6926296, essv6899520, essv6817936, essv6911110, essv6890005
SamplesSSM100, SSM079, SSM087, SSM097, SSM093, SSM088, SSM029, SSM026, SSM089, SSM035, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM015, SSM078, SSM080, SSM004
Known GenesMSH3
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)esv2730379
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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