A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736899



Internal ID9971232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39150352..39151216hg38UCSC Ensembl
Outerchr8:39007871..39008735hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919517, essv6740516, essv6765400, essv6911954, essv6737429, essv6966350, essv6760514, essv6752094, essv6893443, essv6800776, essv6939676, essv6933796, essv6927382, essv6841841, essv6952571, essv6755036, essv6743580, essv6775136, essv6716158, essv6904562, essv6948423, essv6964721, essv6845460, essv6830740, essv6749215, essv6873237, essv6746372, essv6958115, essv6680998, essv6830498, essv6766331, essv6734783, essv6935397, essv6733587, essv6856183, essv6683265, essv6757824, essv6731488, essv6818923, essv6712433
SamplesSSM059, SSM008, SSM027, SSM024, SSM087, SSM009, SSM050, SSM042, SSM002, SSM057, SSM058, SSM084, SSM021, SSM047, SSM061, SSM026, SSM017, SSM019, SSM003, SSM001, SSM033, SSM066, SSM085, SSM081, SSM007, SSM015, SSM078, SSM053, SSM022, SSM010, SSM091, SSM055, SSM025, SSM004, SSM043, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesADAM32
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)esv2736899
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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