A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900380



Internal ID9947675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12554218..12554595hg38UCSC Ensembl
Outerchr10:12596217..12596594hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733173
Supporting Variants
SamplesSSM100
Known GenesCAMK1D
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)essv6900380
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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