A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2427556



Internal ID8491114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:179195593..179218611hg38UCSC Ensembl
Innerchr2:180060320..180083338hg19UCSC Ensembl
Innerchr2:179768565..179791583hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3823019
hg1923019
hg1823019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5330246
SamplesNA18507
Known GenesSESTD1
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)esv2427556
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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