A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738821



Internal ID10322457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:98265498..98271299hg38UCSC Ensembl
Outerchr9:101027780..101033581hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg385802
hg195802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850483, essv6708398, essv6740680, essv6958474, essv6823202, essv6767954, essv6862220, essv6912145, essv6694154, essv6967795, essv6684715, essv6803183, essv6802288, essv6830901, essv6876331
SamplesSSM008, SSM011, SSM079, SSM009, SSM073, SSM092, SSM026, SSM001, SSM086, SSM006, SSM081, SSM015, SSM034, SSM004, SSM052
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)esv2738821
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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