A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2459772



Internal ID8523330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:77716735..77726432hg38UCSC Ensembl
Outerchr6:78426452..78436149hg19UCSC Ensembl
Outerchr6:78483171..78492868hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg389698
hg199698
hg189698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5205013
SamplesNA18507
Known GenesMEI4
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)esv2459772
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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