A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6908611



Internal ID10018788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:117126562..117126664hg38UCSC Ensembl
Outerchr10:118886073..118886175hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741328, esv2741317
Supporting Variants
SamplesSSM014
Known GenesKIAA1598
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)essv6908611
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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