A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2523633



Internal ID8240505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8226540..8251139hg38UCSC Ensembl
Innerchr12:8379136..8403735hg19UCSC Ensembl
Innerchr12:8270403..8295002hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3824600
hg1924600
hg1824600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5167248
SamplesNA18507
Known GenesFAM86FP, FAM90A1
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)esv2523633
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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