A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2635467



Internal ID8352339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16686460..16854590hg38UCSC Ensembl
Innerchr17:16589774..16757904hg19UCSC Ensembl
Innerchr17:16530499..16698629hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38168131
hg19168131
hg18168131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5194242
SamplesNA18507
Known GenesCCDC144A, FAM106CP, KRT16P2, USP32P1
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)esv2635467
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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