A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5346512



Internal ID8438247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:169765360..169766668hg38UCSC Ensembl
Outerchr6:170165456..170166764hg19UCSC Ensembl
Outerchr6:169907381..169908689hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381309
hg191309
hg181309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2574170
Supporting Variants
SamplesNA18507
Known GenesERMARD
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)essv5346512
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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