A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738412



Internal ID9972752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:35913262..35913594hg38UCSC Ensembl
Outerchr9:35913259..35913591hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720223, essv6677328, essv6838166, essv6684661, essv6695014, essv6915709, essv6709100, essv6887628, essv6894223, essv6939821
SamplesSSM083, SSM041, SSM096, SSM032, SSM044, SSM016, SSM037, SSM022, SSM034, SSM098
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)esv2738412
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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