A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747844



Internal ID10328814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:95196087..95197008hg38UCSC Ensembl
Outerchr13:95848341..95849262hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38922
hg19922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905078, essv6752705, essv6735320, essv6681775, essv6741256, essv6746993, essv6772259, essv6876822, essv6940543, essv6901110, essv6744164, essv6738044, essv6775877, essv6977593, essv6807521, essv6836265, essv6668316, essv6749826, essv6716993, essv6857522, essv6734376, essv6761108, essv6909929, essv6739920, essv6755728, essv6787958, essv6928081, essv6972784, essv6936358, essv6774108, essv6959594, essv6912799, essv6842639, essv6940684
SamplesSSM008, SSM065, SSM087, SSM013, SSM009, SSM050, SSM002, SSM057, SSM058, SSM092, SSM084, SSM021, SSM069, SSM061, SSM029, SSM026, SSM019, SSM003, SSM001, SSM033, SSM066, SSM007, SSM015, SSM053, SSM022, SSM010, SSM055, SSM004, SSM043, SSM052, SSM049, SSM056, SSM030, SSM012
Known GenesABCC4
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)esv2747844
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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