A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747178



Internal ID10328148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:26982676..26983320hg38UCSC Ensembl
Outerchr13:27556813..27557457hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746941, essv6681703, essv6668286, essv6831436, essv6787883, essv6866909, essv6857415, essv6920342, essv6953366, essv6970956, essv6741186, essv6783685, essv6695699, essv6912739, essv6842567, essv6924469, essv6775822, essv6685196, essv6851408, essv6732259, essv6977463, essv6698843, essv6916248, essv6728458, essv6673356, essv6931982, essv6768606, essv6827857, essv6791979, essv6800355, essv6945088
SamplesSSM046, SSM011, SSM064, SSM087, SSM038, SSM023, SSM028, SSM084, SSM047, SSM018, SSM069, SSM029, SSM017, SSM031, SSM086, SSM033, SSM066, SSM068, SSM081, SSM072, SSM020, SSM015, SSM016, SSM080, SSM037, SSM055, SSM070, SSM025, SSM034, SSM052, SSM030
Known Genes
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)esv2747178
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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