A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2545999



Internal ID8609557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170266250..170268393hg38UCSC Ensembl
Outerchr6:170575338..170577481hg19UCSC Ensembl
Outerchr6:170417263..170419406hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382144
hg192144
hg182144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5175476
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)esv2545999
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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