A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2502867



Internal ID8566425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2324259..2326810hg38UCSC Ensembl
Innerchr1:2255698..2258249hg19UCSC Ensembl
Innerchr1:2245558..2248109hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382552
hg192552
hg182552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5196708
SamplesNA18507
Known GenesMORN1
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)esv2502867
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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