A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737938



Internal ID9972277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142875561..142915781hg38UCSC Ensembl
Outerchr8:143956977..143997197hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3840221
hg1940221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709055, essv6734839, essv6677278, essv6731577, essv6958303, essv6707998, essv6948519, essv6948520, essv6737495, essv6767276, essv6778918, essv6708009, essv6814981, essv6760589, essv6919608, essv6701868, essv6771536, essv6755115, essv6944303, essv6743645, essv6811839, essv6716234, essv6688376, essv6720174, essv6819050, essv6897252, essv6912046, essv6811840, essv6672257, essv6755114, essv6873310, essv6808967, essv6672258, essv6958304, essv6677279, essv6698396, essv6935519, essv6782974, essv6734840, essv6752166, essv6876261, essv6879115, essv6768091
SamplesSSM065, SSM092, SSM053, SSM006, SSM091, SSM061, SSM099, SSM078, SSM043, SSM064, SSM031, SSM057, SSM001, SSM032, SSM039, SSM024, SSM067, SSM050, SSM041, SSM077, SSM093, SSM017, SSM047, SSM021, SSM038, SSM023, SSM068, SSM044, SSM075, SSM015, SSM026, SSM049, SSM008, SSM076, SSM058
Known GenesCYP11B1, CYP11B2
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)esv2737938
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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