A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765649



Internal ID10171688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133202488..133203484hg38UCSC Ensembl
Outerchr10:135015992..135016988hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38997
hg19997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743837
Supporting Variants
SamplesSSM063
Known GenesKNDC1
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)essv6765649
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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