A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731607



Internal ID10315243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13542106..13542398hg38UCSC Ensembl
Outerchr6:13542338..13542630hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927374, essv6875621, essv6671004, essv6690340, essv6938900, essv6830101, essv6893424, essv6751521, essv6963600, essv6802501, essv6974649, essv6767441, essv6959762, essv6786299, essv6922967, essv6878540, essv6715415, essv6884136, essv6778095, essv6794188, essv6770703, essv6896705, essv6745882, essv6757329, essv6754451, essv6914997, essv6956872, essv6680313, essv6790420, essv6814239, essv6762555, essv6918660, essv6926703, essv6911235, essv6739903, essv6855115, essv6877931, essv6844816, essv6805336, essv6711752, essv6969272, essv6818112, essv6704908, essv6841161, essv6951787, essv6774536
SamplesSSM059, SSM036, SSM027, SSM064, SSM065, SSM087, SSM009, SSM073, SSM093, SSM074, SSM042, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM018, SSM069, SSM029, SSM062, SSM026, SSM017, SSM019, SSM003, SSM031, SSM067, SSM033, SSM066, SSM085, SSM081, SSM040, SSM015, SSM078, SSM016, SSM077, SSM022, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098
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)esv2731607
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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