A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5345226



Internal ID8436961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45139953..45141149hg38UCSC Ensembl
Outerchr17:43217320..43218516hg19UCSC Ensembl
Outerchr17:40572846..40574299hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381197
hg191197
hg181454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2516666
Supporting Variants
SamplesNA18507
Known GenesACBD4
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)essv5345226
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer