A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940088



Internal ID10047622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131110812..131114511hg38UCSC Ensembl
Outerchr10:132909075..132912774hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743528
Supporting Variants
SamplesSSM022
Known GenesTCERG1L
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)essv6940088
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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