A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2586978



Internal ID8303850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154108003..154113071hg38UCSC Ensembl
Outerchr1:154080479..154085547hg19UCSC Ensembl
Outerchr1:152347103..152352171hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg385069
hg195069
hg185069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5305380
SamplesNA18507
Known GenesNUP210L
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)esv2586978
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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