A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739126



Internal ID10322762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132269894..132270129hg38UCSC Ensembl
Outerchr9:135145281..135145516hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768196, essv6724096, essv6958533, essv6923892, essv6845635, essv6897349, essv6740721, essv6876357, essv6668009, essv6838233, essv6968074, essv6970334, essv6760677, essv6834531, essv6768276
SamplesSSM008, SSM083, SSM045, SSM064, SSM028, SSM092, SSM018, SSM061, SSM026, SSM085, SSM082, SSM004, SSM099, SSM052, SSM030
Known GenesSETX
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)esv2739126
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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