A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2579624



Internal ID8296496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:21304881..21308425hg38UCSC Ensembl
Innerchr20:21285519..21289063hg19UCSC Ensembl
Innerchr20:21233519..21237063hg18UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg383545
hg193545
hg183545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5210101
SamplesNA18507
Known GenesXRN2
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)esv2579624
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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