A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731129



Internal ID10314765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174068623..174068979hg38UCSC Ensembl
Outerchr5:173495626..173495982hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907400, essv6922927, essv6805303, essv6959518, essv6956782, essv6708301, essv6855037, essv6715379, essv6848918, essv6911183, essv6878506, essv6963506, essv6969230, essv6974556, essv6723105, essv6833651
SamplesSSM027, SSM045, SSM087, SSM093, SSM074, SSM041, SSM028, SSM018, SSM029, SSM026, SSM014, SSM086, SSM082, SSM015, SSM004, SSM043
Known GenesHMP19
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)esv2731129
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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