A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5168579



Internal ID8260314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:37796534..37797475hg38UCSC Ensembl
Outerchr7:37836136..37837077hg19UCSC Ensembl
Outerchr7:37802661..37803602hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2593780
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)essv5168579
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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