A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5183947



Internal ID8275682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150589163..150590297hg38UCSC Ensembl
Outerchr6:150910299..150911433hg19UCSC Ensembl
Outerchr6:150951992..150953126hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2449393
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)essv5183947
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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