A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731287



Internal ID9965604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179313236..179313857hg38UCSC Ensembl
Outerchr5:178740237..178740858hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6822342, essv6818061, essv6697836, essv6770678, essv6794530, essv6694037, essv6786271, essv6700931, essv6974584, essv6690312, essv6907413, essv6963528, essv6926678, essv6708311, essv6841132, essv6837308, essv6730767, essv6719296, essv6865441, essv6767413, essv6715390, essv6934581, essv6938876
SamplesSSM065, SSM022, SSM027, SSM036, SSM084, SSM078, SSM043, SSM089, SSM064, SSM071, SSM039, SSM083, SSM041, SSM029, SSM047, SSM069, SSM021, SSM037, SSM038, SSM019, SSM079, SSM044, SSM014
Known GenesADAMTS2
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)esv2731287
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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