A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5306748



Internal ID8398483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83011349..83012714hg38UCSC Ensembl
Outerchr17:80969225..80970590hg19UCSC Ensembl
Outerchr17:78562514..78563879hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381366
hg191366
hg181366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2476328
Supporting Variants
SamplesNA18507
Known GenesB3GNTL1
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)essv5306748
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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