A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5384574



Internal ID8476309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:81639238..81640303hg38UCSC Ensembl
Outerchr6:82348955..82350020hg19UCSC Ensembl
Outerchr6:82405674..82406739hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38220
hg19220
hg18220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2618577
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)essv5384574
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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