A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960555



Internal ID10062841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82982058..82982138hg38UCSC Ensembl
Outerchr17:80939934..80940014hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716578, esv2716579, esv2716581, esv2716580
Supporting Variants
SamplesSSM026
Known GenesB3GNTL1
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)essv6960555
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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