A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2475213



Internal ID8538771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107824307..107920863hg38UCSC Ensembl
Innerchr2:108440763..108537319hg19UCSC Ensembl
Innerchr2:107807195..107903751hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3896557
hg1996557
hg1896557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5325368
SamplesNA18507
Known GenesRGPD4, RGPD4-AS1
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)esv2475213
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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