A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5330237



Internal ID8075286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514102..76553042hg38UCSC Ensembl
Innerchr7:76143419..76182359hg19UCSC Ensembl
Innerchr7:75981355..76020295hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3838941
hg1938941
hg1838941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2577198
Supporting Variants
SamplesNA18507
Known GenesLOC100133091, UPK3B
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)essv5330237
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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