A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2545651



Internal ID8609209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33057619..33069844hg38UCSC Ensembl
Innerchr6:33025396..33037621hg19UCSC Ensembl
Innerchr6:33133374..33145599hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3812226
hg1912226
hg1812226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5363568
SamplesNA18507
Known GenesHLA-DPA1
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)esv2545651
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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