A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750301



Internal ID9984585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1191025..1191329hg38UCSC Ensembl
Outerchr16:1241025..1241329hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800706, essv6796491, essv6721138
SamplesSSM072, SSM071, SSM044
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)esv2750301
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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