A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5325318



Internal ID8417053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36956801..36959987hg38UCSC Ensembl
Innerchr1:37422402..37425588hg19UCSC Ensembl
Innerchr1:37194989..37198175hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg383187
hg193187
hg183187
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2553528
Supporting Variants
SamplesNA18507
Known GenesGRIK3
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)essv5325318
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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