A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5225689



Internal ID7970738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:8321757..8322554hg38UCSC Ensembl
Outerchr1:8381817..8382614hg19UCSC Ensembl
Outerchr1:8304404..8305201hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38455
hg19455
hg18455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2601359
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)essv5225689
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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