A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737638



Internal ID10321274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:135573958..135574459hg38UCSC Ensembl
Outerchr8:136586201..136586702hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827128, essv6976089, essv6850286, essv6720145, essv6939753, essv6944276, essv6931219
SamplesSSM023, SSM029, SSM044, SSM086, SSM020, SSM080, SSM022
Known GenesKHDRBS3
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)esv2737638
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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