A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750299



Internal ID10331269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1185783..1186226hg38UCSC Ensembl
Outerchr16:1235783..1236226hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784038, essv6724928, essv6835308
SamplesSSM045, SSM068, SSM082
Known GenesCACNA1H
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)esv2750299
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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