A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2521430



Internal ID8584988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65443389..65444858hg38UCSC Ensembl
Outerchr1:65909072..65910541hg19UCSC Ensembl
Outerchr1:65681660..65683129hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381470
hg191470
hg181470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5360102
SamplesNA18507
Known GenesLEPR
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2521430
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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