A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2597795



Internal ID8314667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16596035..16641943hg38UCSC Ensembl
Innerchr1:16922530..16968438hg19UCSC Ensembl
Innerchr1:16795117..16841025hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3845909
hg1945909
hg1845909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5337771
SamplesNA18507
Known GenesCROCCP2, NBPF1
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)esv2597795
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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