A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796818



Internal ID10197938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82981944..82982321hg38UCSC Ensembl
Outerchr17:80939820..80940197hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716578, esv2716579, esv2716581, esv2716580
Supporting Variants
SamplesSSM071
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)essv6796818
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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