A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6737629



Internal ID10147347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:4247888..4249452hg38UCSC Ensembl
Outerchr10:4290080..4291644hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731572
Supporting Variants
SamplesSSM050
Known Genes
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)essv6737629
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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