A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6963954



Internal ID10070479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167004515..167004682hg38UCSC Ensembl
Outerchr6:167418003..167418170hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733213, esv2733214
Supporting Variants
SamplesSSM027
Known GenesFGFR1OP
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)essv6963954
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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