A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750419



Internal ID9984703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3868245..3868487hg38UCSC Ensembl
Outerchr16:3918246..3918488hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673934, essv6685489, essv6828180, essv6953753, essv6862967, essv6851959
SamplesSSM086, SSM088, SSM031, SSM025, SSM034, SSM080
Known GenesCREBBP
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)esv2750419
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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