A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731286



Internal ID9965603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179312951..179314125hg38UCSC Ensembl
Outerchr5:178739952..178741126hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974584, essv6694037, essv6865441, essv6730767, essv6690312, essv6926678, essv6934581, essv6786271, essv6736874, essv6907413, essv6822342, essv6963528, essv6794530, essv6697836, essv6715390, essv6708311, essv6938876, essv6767413, essv6841132, essv6770678, essv6700931, essv6837308, essv6793920, essv6818061, essv6719296
SamplesSSM036, SSM083, SSM071, SSM027, SSM064, SSM079, SSM065, SSM038, SSM039, SSM009, SSM050, SSM041, SSM084, SSM021, SSM047, SSM069, SSM029, SSM089, SSM019, SSM044, SSM014, SSM078, SSM037, SSM022, SSM043
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)esv2731286
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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