A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5298591



Internal ID8390326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:42535053..42536232hg38UCSC Ensembl
Outerchr1:43000724..43001903hg19UCSC Ensembl
Outerchr1:42773311..42774490hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38145
hg19145
hg18145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2480910
Supporting Variants
SamplesNA18507
Known GenesCCDC30
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)essv5298591
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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