A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5203624



Internal ID8295359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84051321..84059457hg38UCSC Ensembl
Outerchr1:84517004..84525140hg19UCSC Ensembl
Outerchr1:84289592..84297728hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388137
hg198137
hg188137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2456007
Supporting Variants
SamplesNA18507
Known Genes
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)essv5203624
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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