A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727696



Internal ID10311332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247327446..247328332hg38UCSC Ensembl
Outerchr1:247490748..247491634hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38887
hg19887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61e201
Supporting Variantsessv6801791, essv6777141, essv6759229, essv6868889, essv6750420, essv6739019, essv6871889, essv6707455, essv6781090, essv6750772, essv6785213, essv6679390, essv6942025, essv6689455, essv6883416, essv6925878, essv6697143, essv6813350, essv6745112, essv6718368, essv6878643, essv6910271, essv6714456, essv6818376, essv6853558, essv6789395, essv6716375, essv6968168, essv6793528, essv6720487, essv6766714, essv6937887, essv6753684, essv6729830, essv6874882, essv6972738, essv6933531, essv6710784
SamplesSSM036, SSM008, SSM071, SSM064, SSM087, SSM038, SSM073, SSM042, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM047, SSM069, SSM061, SSM029, SSM019, SSM067, SSM044, SSM001, SSM033, SSM068, SSM007, SSM015, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM043, SSM052, SSM012
Known GenesZNF496
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)esv2727696
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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