A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737349



Internal ID10320985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:98452835..98453305hg38UCSC Ensembl
Outerchr8:99465063..99465533hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966661, essv6976032, essv6731526, essv6763017, essv6958204, essv6787127, essv6760558, essv6712477, essv6685376, essv6801221, essv6830775, essv6740559, essv6716190, essv6919558, essv6803069, essv6771481, essv6818996, essv6904874, essv6841883, essv6766798, essv6795397, essv6765433, essv6733954, essv6746405, essv6904375, essv6755077, essv6939712
SamplesSSM008, SSM071, SSM065, SSM013, SSM009, SSM073, SSM042, SSM002, SSM058, SSM084, SSM047, SSM069, SSM061, SSM029, SSM062, SSM026, SSM017, SSM001, SSM007, SSM078, SSM022, SSM010, SSM055, SSM004, SSM043, SSM052, SSM063
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)esv2737349
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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