A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5356759



Internal ID8448494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81424978..81434556hg38UCSC Ensembl
Innerchr17:79398778..79401582hg19UCSC Ensembl
Innerchr17:77013373..77016177hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg389579
hg192805
hg182805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2604305
Supporting Variants
SamplesNA18507
Known GenesBAHCC1
MethodSequencing
AnalysisCopy number variations are detected using the SOLiD Human CNV Tool. Regions with poor mappability are filtered out from consideration and a log ratio of coverage is used to determine areas of increased copy number. A Hidden Markov Model converts increased coverage into discrete copy number states.
PlatformNot specified
CommentsoriginalFile=Yoruban_cnv.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5356759
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer