A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737364



Internal ID10321000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100706988..100709477hg38UCSC Ensembl
Outerchr8:101719216..101721705hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382490
hg192490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6681047, essv6685820, essv6927414, essv6771482, essv6841887, essv6755078, essv6964809, essv6838066, essv6712480, essv6904377, essv6873272, essv6912002, essv6893821, essv6970124, essv6915639, essv6814925, essv6939714, essv6935445, essv6743608
SamplesSSM083, SSM027, SSM065, SSM013, SSM042, SSM058, SSM028, SSM084, SSM021, SSM019, SSM001, SSM033, SSM015, SSM016, SSM053, SSM077, SSM022, SSM091, SSM012
Known GenesPABPC1
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)esv2737364
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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