A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828384



Internal ID10229028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47158334..47171877hg38UCSC Ensembl
Outerchr17:45235700..45249243hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3813544
hg1913544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716008, esv2716003, esv2716005, esv2716001
Supporting Variants
SamplesSSM080
Known GenesCDC27
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)essv6828384
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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