A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5307164



Internal ID8052213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:675236..677360hg38UCSC Ensembl
Outerchr6:675236..677360hg19UCSC Ensembl
Outerchr6:620236..622360hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg382125
hg192125
hg182125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2558058
Supporting Variants
SamplesNA18507
Known GenesEXOC2
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)essv5307164
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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