A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736898



Internal ID9971231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39149557..39151318hg38UCSC Ensembl
Outerchr8:39007076..39008837hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg381762
hg191762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743580, essv6755036, essv6975944, essv6911954, essv6731488, essv6680998, essv6841841, essv6740516, essv6800776, essv6830740, essv6775136, essv6737429, essv6935397, essv6734783, essv6716158, essv6818923, essv6746372, essv6893443, essv6939676, essv6952571, essv6749215, essv6760514, essv6752094, essv6948423, essv6964721, essv6958115, essv6845460, essv6873237, essv6927382, essv6856183, essv6933796, essv6966350, essv6712433, essv6904562
SamplesSSM022, SSM027, SSM053, SSM055, SSM091, SSM033, SSM084, SSM061, SSM042, SSM078, SSM043, SSM025, SSM057, SSM024, SSM050, SSM012, SSM056, SSM085, SSM009, SSM066, SSM029, SSM003, SSM047, SSM021, SSM002, SSM087, SSM019, SSM052, SSM004, SSM015, SSM026, SSM049, SSM058, SSM081
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)esv2736898
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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